Found: 58
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Leigh's disease due to a new mutation in the PDHX gene.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 4, p. 709
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- Publication type:
- Article
Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up.
- Published in:
- Documenta Ophthalmologica, 2022, v. 144, n. 1, p. 53, doi. 10.1007/s10633-021-09849-5
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- Publication type:
- Article
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
- Published in:
- Documenta Ophthalmologica, 2021, v. 142, n. 3, p. 371, doi. 10.1007/s10633-020-09802-y
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- Publication type:
- Article
Mitochondrial response to controlled nutrition in health and disease.
- Published in:
- Nutrition Reviews, 2011, v. 69, n. 2, p. 65, doi. 10.1111/j.1753-4887.2010.00363.x
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- Publication type:
- Article
Citrulline in the management of patients with urea cycle disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02800-8
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- Publication type:
- Article
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 397, doi. 10.1002/humu.23937
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- Publication type:
- Article
Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?
- Published in:
- Nephrology Dialysis Transplantation, 2005, v. 20, n. 11, p. 2563, doi. 10.1093/ndt/gfi063
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- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
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- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
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- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
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- Publication type:
- Article
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
- Published in:
- 2019
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- Publication type:
- journal article
Mitochondrial cytochrome c oxidase deficiency.
- Published in:
- Clinical Science, 2016, v. 130, n. 6, p. 393, doi. 10.1042/CS20150707
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- Publication type:
- Article
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
- Published in:
- Biomedicines, 2021, v. 9, n. 8, p. 989, doi. 10.3390/biomedicines9080989
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- Publication type:
- Article
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50518-0
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- Publication type:
- Article
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
- Published in:
- 2019
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- Publication type:
- journal article
Betaine anhydrous in homocystinuria: results from the RoCH registry.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 2018
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- Publication type:
- journal article
Antenatal nephromegaly and propionic acidemia: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16275
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- Publication type:
- Article
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 9, p. 2828, doi. 10.1111/ene.15894
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- Publication type:
- Article
Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells.
- Published in:
- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0224132
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- Publication type:
- Article
Autism and inborn errors of metabolism: how much is enough?
- Published in:
- Developmental Medicine & Child Neurology, 2015, v. 57, n. 9, p. 788, doi. 10.1111/dmcn.12771
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- Publication type:
- Article
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3238, doi. 10.1093/hmg/ddv074
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- Publication type:
- Article
Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028823
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- Publication type:
- Article
Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021932
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- Publication type:
- Article
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
- Published in:
- 2022
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- Publication type:
- journal article
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
- Published in:
- 2022
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- Publication type:
- journal article
Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?
- Published in:
- Pediatric Radiology, 2010, v. 40, n. 8, p. 1417, doi. 10.1007/s00247-009-1534-9
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- Publication type:
- Article
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 163, doi. 10.1002/jmd2.12422
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- Publication type:
- Article
Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 110, doi. 10.1002/jmd2.12207
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- Publication type:
- Article
High homocysteine induces betaine depletion.
- Published in:
- Bioscience Reports, 2015, v. 35, n. 4, p. 1, doi. 10.1042/BSR20150094
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- Publication type:
- Article
Idebenone in Friedreich ataxia and Leber's hereditary optic neuropathy: close mechanisms, similar therapy?
- Published in:
- 2016
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- Publication type:
- letter
Successful treatment of severe MSUD in Bckdhb<sup>−/−</sup> mice with neonatal AAV gene therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 41, doi. 10.1002/jimd.12604
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- Publication type:
- Article
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 649, doi. 10.1002/jimd.12592
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- Publication type:
- Article
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 937, doi. 10.1002/jimd.12525
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- Publication type:
- Article
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 903, doi. 10.1002/jimd.12371
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- Publication type:
- Article
Long term outcome of MPI‐CDG patients on D‐mannose therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1360, doi. 10.1002/jimd.12289
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- Publication type:
- Article
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203
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- Publication type:
- Article
Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 234, doi. 10.1002/jimd.12174
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- Publication type:
- Article
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
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- Publication type:
- Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5
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- Publication type:
- Article
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 129, doi. 10.1007/s10545-017-0079-6
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- Publication type:
- Article
Metabolic pathways at the crossroads of diabetes and inborn errors.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 5, doi. 10.1007/s10545-017-0091-x
- By:
- Publication type:
- Article
K. Sarafoglou, G. F. Hoffmann, K. S. Roth (eds): Pediatric endocrinology and inborn errors of metabolism. Second edition.
- Published in:
- 2017
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- Publication type:
- Book Review
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
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- Publication type:
- Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
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- Publication type:
- Article
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
- By:
- Publication type:
- Article
Impact of age at onset and newborn screening on outcome in organic acidurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 341, doi. 10.1007/s10545-015-9907-8
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- Publication type:
- Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
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- Publication type:
- Article
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 823, doi. 10.1007/s10545-011-9429-y
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- Publication type:
- Article