Found: 26
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Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0244-7
- By:
- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7
- By:
- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Recommendations for the management of tyrosinaemia type 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-8
- By:
- Publication type:
- Article
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.17163
- By:
- Publication type:
- Article
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
The Compartmentalisation of Phosphorylated Free Oligosaccharides in Cells from a CDG Ig Patient Reveals a Novel ER-to-Cytosol Translocation Process.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011675
- By:
- Publication type:
- Article
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 479, doi. 10.1007/s00439-002-0708-4
- By:
- Publication type:
- Article
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 577, doi. 10.1038/sj.ejhg.5200675
- By:
- Publication type:
- Article
Functional characterization of novel mutations in the human cytochrome b gene.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 510, doi. 10.1038/sj.ejhg.5200678
- By:
- Publication type:
- Article
Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 249, doi. 10.1515/jpem.2011.040
- By:
- Publication type:
- Article
Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1516, doi. 10.1093/brain/awm067
- By:
- Publication type:
- Article
Leigh's disease due to a new mutation in the PDHX gene.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 4, p. 709
- By:
- 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
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 795, doi. 10.1007/s10545-012-9542-6
- By:
- 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
- By:
- Publication type:
- Article
Isolated remethylation disorders: do our treatments benefit patients?
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 137, doi. 10.1007/s10545-010-9120-8
- By:
- Publication type:
- Article
Should transcobalamin deficiency be treated aggressively?
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 223, doi. 10.1007/s10545-010-9074-x
- By:
- Publication type:
- Article
Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.
- Published in:
- Annals of Neurology, 2001, v. 49, n. 5, p. 607, doi. 10.1002/ana.1002
- By:
- Publication type:
- Article