Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

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Review: Central nervous system involvement in mitochondrial disease

(2016) N. Z. Lax et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

(2015) Hanan E. Shamseldin et al.   HUMAN GENETICS

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes: Table 1

(2014) Paola Venco et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Neonatal neuroimaging findings in inborn errors of metabolism

(2012) Andrea Poretti et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

The mitochondrial transporter family SLC25: Identification, properties and physiopathology

(2012) Ferdinando Palmieri   MOLECULAR ASPECTS OF MEDICINE

Diagnosis and treatment of mitochondrial myopathies

(2011) Gerald Pfeffer et al.   ANNALS OF MEDICINE

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

(2011) Valerio Leoni et al.   MOLECULAR GENETICS AND METABOLISM

Modifier genes in Mendelian disorders: the example of cystic fibrosis

(2010) Garry R. Cutting   Annals of the New York Academy of Sciences

Mitochondrial diseases in childhood: a clinical approach to investigation and management

(2010) JILL EDITH KISLER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The 3-methylglutaconic acidurias: what’s new?

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A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3′,5′-Diphosphate in Human Mitochondria

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