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Research article

First published 2011-8

Congenital lactic acidosis and mitochondrial disease – when to suspect and how to manage

V. Nesbitt, K. Bartlett, R.W. Taylor [...]

Journal of Neonatal-Perinatal Medicine

Open access

Research article

First published 2018-4-13

Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction

David B. Beck, Kristina Cusmano-Ozog, Nickie Andescavage [...]

Translational Science of Rare Diseases

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Research article

First published 2002-06

Continuous pH Monitoring Using the Paratrend® 7 Inserted into a Peripheral Vein in a Patient with Shock and Congenital Lactic Acidosis

R. Blaine Easley, Tiffanie R. Johnson, Joseph D. Tobias

Clinical Pediatrics

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Research article

First published 2016-2

Adrenal Insufficiency in Mitochondrial Disease

Laurel Calderwood, Ingrid A. Holm, Lisa A. Teot [...]

Journal of Child Neurology

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Research article

First published 1999-07

Acute or Subacute Cranial Computed Tomography Findings in Patients with Congenital Lactic Acidemia

Galen N. Breningstall

Clinical Pediatrics

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Research article

First published 1994-01

Leigh Syndrome: Pyruvate Dehydrogenase Defect. A Case With Peripheral Neuropathy

B. Chabrol, J. Mancini, C. Benelli [...]

Journal of Child Neurology

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Research article

First published 2020-6

Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions

Ahmed Gilani, Johan LK Van Hove, Janet A Thomas [...]

Pediatric and Developmental Pathology

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Research article

First published 2015-1

An Unusual Cause of Persisting Hyperlactatemia in a Neonate Undergoing Open Heart Surgery

Ashish Kumar Simalti, Raja Joshi, Neeraj Aggarwal [...]

World Journal for Pediatric and Congenital Heart Surgery

Open access

Case report

First published 2017-12-18

Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation

Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia-Mahay [...]

Translational Science of Rare Diseases

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Research article

First published 2000-10

Recombinant Adeno-Associated Virus Vector-Based Gene Transfer for Defects in Oxidative Metabolism

Renius Owen, Alfred P. Lewin, Alyson Peel [...]

Human Gene Therapy

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