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Case report

First published 2019-12

A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia,Hyperammonemia,and Failure to Thrive

Jessenia C Guerrero, Helio Pedro, Sarah Parisotto [...]

Pediatric and Developmental Pathology

Free access

Research article

First published 2003-5

Mitochondrial Dna Depletion and Respiratory Chain Enzyme Deficiencies are Present in Peripheral Blood Mononuclear Cells of HIV-Infected Patients with Haart-Related Lipodystrophy

Òscar Miró, Sònia López, Enric Pedrol [...]

Antiviral Therapy

Open access

Research article

First published 2024-07-02

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease

Catarina Olimpio, Ida Paramonov, Leslie Matalonga [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2013-9

Glial Cell Line-Derived Neurotrophic Factor Partially Ameliorates Motor Symptoms without Slowing Neurodegeneration in Mice with Respiratory Chain-Deficient Dopamine Neurons

Fredrik H. Sterky, Karin Pernold, Brandon K. Harvey [...]

Cell Transplantation

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Research article

First published 1990-3

Treatment of acid maltase deficiency with a diet high in branched-chain amino acids

S Mobarhan, RL Pintozzi, P Damle [...]

Journal of Parenteral and Enteral Nutrition

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Research article

First published 2011-8

Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders

Yan-Yan Ma, Xue-Lin Zhang, Tong-Fei Wu [...]

Journal of Child Neurology

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Research article

First published 1964-7

In vivo Inhibition of Lipogenesis by Biotin Deficiency. ∗

William E. Donaldson

Experimental Biology and Medicine

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Other

First published 2001-02

Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic Aciduria

Fernando Scaglia, V. Reid Sutton, Olaf A.F Bodamer [...]

Journal of Child Neurology

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Research article

First published 2003-10

The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

D. Skladal, C. Sudmeier, V. Konstantopoulou [...]

Clinical Pediatrics

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Research article

First published 1975-3

Effects of Vitamin E Deficiency on GSH-lnduced Swelling of Rat Liver Mitochondria 1 2

Sydney O. Alozie, LeGrande C. Ellis, Ralph M. Johnson [...]

Experimental Biology and Medicine

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