Neonatal metabolic myopathies (Q33637042)

28 July 2017

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title

Neonatal metabolic myopathies (English)

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28 July 2017

Tein I

1

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28 July 2017

publication date

1 April 1999

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28 July 2017

published in

Seminars in Perinatology

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28 July 2017

volume

23

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28 July 2017

issue

2

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28 July 2017

page(s)

125-151

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Fuel Homeostasis in Exercise

28 July 2017

cites work

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7 January 2021

Glucose turnover during exercise in man

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7 January 2021

Glycogen depletion of different fibre types in human skeletal muscle during intermittent and continuous exercise

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7 January 2021

Selective glycogen depletion pattern in human muscle fibres after exercise of varying intensity and at varying pedalling rates

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7 January 2021

Intramuscular substrate utilization during prolonged exercise

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7 January 2021

Changes in lipoprotein-lipase activity and lipid stores in human skeletal muscle with prolonged heavy exercise

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7 January 2021

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Muscle Phosphofructokinase Deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Branching enzyme-deficiency glycogenosis: studies in therapy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Combined enzyme defect of mitochondrial fatty acid oxidation

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Infantile encephalopathy associated with the MELAS A3243G mutation

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Regional localization of loci on chromosome 14 using somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Physical localization of chromosome 20 markers using somatic cell hybrid cell lines and fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Assignment of the human glycogen debrancher gene to chromosome 1p21.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen→q32) using somatic cell hybrids and monoclonal anti-M antibody

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Residual acid maltase activity in late-onset acid maltase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Improvement of muscle function in acid maltase deficiency by high-protein therapy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Phosphorylase b kinase deficiency in man: a review

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Fatal infantile form of muscle phosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Fatal infantile muscle phosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

McArdle's syndrome (myopathy in muscle phosphorylase deficiency)

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Dominant inheritance of McArdle syndrome

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

McArdle's disease: two clinical expressions in the same pedigree

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Histochemical detection of phosphorylase in animal tissues

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzyme

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

McArdle's disease: biochemical and molecular genetic studies

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Molecular heterogeneity in McArdle's disease

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Myophosphorylase deficiency impairs muscle oxidative metabolism

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Amino Acid Metabolism in McArdle's Syndrome

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Myopathy in McArdle's syndrome. Improvement with a high-protein diet

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

The long-term outcome of patients with glycogen storage diseases

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Type III glycogenosis presenting as liver disease in adults with atypical histological features

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Biochemical investigation of an unusual case of glycogenosis.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Myopathy associated with Type III glycogenosis

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Reversal of debrancher deficiency myopathy by the use of high-protein nutrition

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Neuromuscular involvement in glycogen storage disease type III.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Gross cardiac involvement in glycogen storage disease type 3

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Cardiac involvement in glycogen storage disease type III

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Glycogen debrancher deficiency is reproduced in muscle culture

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Histochemical diagnosis of muscle phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Cloning of human muscle phosphofructokinase cDNA

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Biochemistry and molecular genetics of human glycogenoses: An overview

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Phosphoglycerate kinase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Glycogenosis IV: A new cause of infantile hypotonia

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Report of a case with histochemical and electron microscopic studies

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Severe cardiopathy in branching enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Liver transplantation for type IV glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Dissecting the spectrum of fatty acid oxidation disorders

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Defects of metabolism of fatty acids in the sudden infant death syndrome

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

1 reference

7 January 2021

Fatty acid oxidation disorders: A new class of metabolic diseases

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Hypoglycaemia in infants and children

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Hypoglycemia in infancy and childhood. Part I

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Multiple factors in experimental human ketosis

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Effect of Reye's syndrome serum on isolated chinchilla liver mitochondria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Serum dicarboxylic acids in patients with Reye syndrome

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

L-palmitylcarnitine and calcium ions act similarly on excitatory ionic currents in avian ventricular muscle

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Direct activation of Ca2 channels by palmitoyl carnitine, a putative endogenous ligand

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Cytosolic calcium transients from the beating mammalian heart

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Carnitine--metabolism and functions

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

A radioisotopic-exchange method for quantitation of short-chain (acid-soluble) acylcarnitines

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Evidence for intermediate channeling in mitochondrial beta-oxidation

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Prenatal diagnosis of mitochondrial fatty acid oxidation defects

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Acyl-CoA: glycine N-acyltransferase: in vitro studies on the glycine conjugation of straight- and branched-chained acyl-CoA esters in human liver

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Identification and purification of the carnitine carrier from rat liver mitochondria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Kinetic characterization of the reconstituted carnitine carrier from rat liver mitochondria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Mitochondrial metabolite transporters.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Beta-oxidation of long-chain fatty acids by human fibroblasts: evidence for a novel long-chain acyl-coenzyme A dehydrogenase

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2.

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Purification and characterization of the trifunctional beta-oxidation complex from pig heart mitochondria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Frequency of the G985 MCAD mutation in the general population

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

The incidence and presentation of dicarboxylic aciduria

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene

1 reference

https://api.crossref.org/works/10.1016/S0146-0005(99)80046-9

7 January 2021

10.1016/S0146-0005(99)80046-9

Identifiers

DOI

1 reference

28 July 2017

1 reference