Pages that link to "Q35216844"
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The following pages link to Multiple phenotypes in phosphoglucomutase 1 deficiency (Q35216844):
Displaying 50 items.
- Glycogen metabolism in humans (Q26751151) (← links)
- Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation (Q26799603) (← links)
- Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG (Q26824332) (← links)
- Neurological aspects of human glycosylation disorders (Q26830686) (← links)
- ALG8-CDG: novel patients and review of the literature (Q27687442) (← links)
- Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency (Q27704246) (← links)
- Insights from exome sequencing for endocrine disorders (Q28088772) (← links)
- Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency (Q28115119) (← links)
- Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function (Q28246885) (← links)
- Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency (Q33624878) (← links)
- PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia (Q33858620) (← links)
- Mannose metabolism: more than meets the eye. (Q34615237) (← links)
- Diagnostic evaluation of rhabdomyolysis (Q35624916) (← links)
- Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology (Q35725275) (← links)
- The evolutionary fate of alternatively spliced homologous exons after gene duplication (Q35826230) (← links)
- Rhabdomyolysis: a genetic perspective. (Q35908344) (← links)
- SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation (Q36369946) (← links)
- Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders (Q36716020) (← links)
- ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan (Q36919737) (← links)
- Liver glucose metabolism in humans (Q37626792) (← links)
- Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme (Q37716679) (← links)
- Congenital disorders of glycosylation: new defects and still counting (Q38211994) (← links)
- Exercise in muscle glycogen storage diseases (Q38261159) (← links)
- Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease (Q38264149) (← links)
- Malignant hyperthermia, a Scandinavian update. (Q38491486) (← links)
- Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1 (Q38610086) (← links)
- Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation (Q38688788) (← links)
- Skeletal muscle disorders of glycogenolysis and glycolysis (Q38845735) (← links)
- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review (Q38922256) (← links)
- Hyper-IgE Syndromes and the Lung (Q38925032) (← links)
- Phosphoglucomutase1 is necessary for sustained cell growth under repetitive glucose depletion. (Q38982419) (← links)
- Asp263 missense variants perturb the active site of human phosphoglucomutase 1. (Q39002255) (← links)
- Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. (Q39097165) (← links)
- Congenital Hyperinsulinism in china: a review of Chinese literature over the past 15 years (Q39166993) (← links)
- Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties (Q39401763) (← links)
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature (Q39446939) (← links)
- Biology, Mechanism, and Structure of Enzymes in the α-d-Phosphohexomutase Superfamily (Q40145092) (← links)
- High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation (Q40607522) (← links)
- Limitations of galactose therapy in phosphoglucomutase 1 deficiency (Q41220043) (← links)
- Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology (Q41555063) (← links)
- News on Clinical Details and Treatment in PGM1-CDG (Q41590952) (← links)
- Perhaps a wee bit of sugar would help (Q42272453) (← links)
- Disease severity and clinical outcome in phosphosglucomutase deficiency (Q43167294) (← links)
- Defective PGM1 causes PGM1-CDG (Q45316559) (← links)
- Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. (Q45869436) (← links)
- Oral D-galactose supplementation in PGM1-CDG. (Q47106452) (← links)
- Nutritional Therapies in Congenital Disorders of Glycosylation (CDG). (Q47115793) (← links)
- Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation. (Q47872107) (← links)
- Congenital Hyperinsulinism: Diagnosis and Treatment Update (Q47894084) (← links)
- An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia (Q48227636) (← links)