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M. Rimoldi

Boston Children's Hospital

61

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

2012 Molecular Genetics and Metabolism
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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

2012 Orphanet Journal of Rare Diseases
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P-14Multiple acyl-coa dehydrogenase deficiency:a possibly treatable condition

2011
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Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

2009 Nature Medicine
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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

2008 Journal of Medical Genetics
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Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families

2004 Neurological Sciences
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L-2-hydroxyglutaric aciduria and brain malignant tumors A predisposing condition?

2004 Neurology
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Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

2000 Molecular Genetics and Metabolism
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Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

2000 Neurological Sciences
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A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy

2000 Pediatric Neurology
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