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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

artículo científico publicado en 2017

CUGC for lysinuric protein intolerance (LPI)

scientific article published on 06 April 2020

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

artículo científico publicado en 2015

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

artículo científico publicado en 2017

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

scientific article published on 03 November 2019

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

scientific article published on 01 October 2019

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

scientific article published on 07 November 2019

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13

scientific article published on 16 May 2019

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

artículo científico publicado en 2016

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

artículo científico publicado en 2020

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

artículo científico publicado en 2016

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

artículo científico publicado en 2019

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