Antenatal manifestations of mitochondrial disorders. (Q38077672)

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22 February 2020

title

Antenatal manifestations of mitochondrial disorders (English)

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22 February 2020

2

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22 February 2020

Ana Patrícia Domingues

3

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22 February 2020

Luísa Diogo

8

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22 February 2020

Manuela Grazina

9

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22 February 2020

author name string

Mariana Vide Tavares

1

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22 February 2020

João Pratas

4

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22 February 2020

Cândida Mendes

5

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22 February 2020

Marta Simões

6

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22 February 2020

Paulo Moura

7

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22 February 2020

publication date

30 January 2013

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Journal of Inherited Metabolic Disease

22 February 2020

published in

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22 February 2020

volume

36

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22 February 2020

issue

5

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22 February 2020

page(s)

805-811

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Depletion of mtDNA: syndromes and genes

22 February 2020

cites work

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Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal

21 January 2018

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Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.

21 January 2018

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Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report

21 January 2018

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Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association

21 January 2018

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Antenatal manifestations of mitochondrial respiratory chain deficiency

21 January 2018

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Clinical spectrum and diagnosis of mitochondrial disorders

21 January 2018

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Neonatal liver failure due to deoxyguanosine kinase deficiency

21 January 2018

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Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

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Diagnosis of mitochondrial DNA depletion syndromes

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Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 January 2018

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The epidemiology of mitochondrial disorders--past, present and future

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Mitochondrial genetics and disease

21 January 2018

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The clinical spectrum of mitochondrial disease in 75 pediatric patients

21 January 2018

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Disorders of nuclear-mitochondrial intergenomic signaling

21 January 2018

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Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

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Biomarkers for mitochondrial respiratory chain disorders

21 January 2018

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The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases

21 January 2018

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Real‐Time Quantitative PCR Analysis of Mitochondrial DNA Content

21 January 2018

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Developmental aspects of respiratory chain from fetus to infancy.

21 January 2018

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Risk of developing a mitochondrial DNA deletion disorder

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Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

21 January 2018

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Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

21 January 2018

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12 December 2020

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

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12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

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12 December 2020

Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis

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12 December 2020