Found: 18
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Hyperammonaemia as a cause of psychosis in an adolescent.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Déficit de glicerol kinasa en el adulto: hipertrigliceridemia resistente a tratamiento dietético y farmacológico.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
- Published in:
- Nutrients, 2022, v. 14, n. 13, p. 2755, doi. 10.3390/nu14132755
- By:
- Publication type:
- Article
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- 2007
- By:
- Publication type:
- Correction notice
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 4, p. 305, doi. 10.1007/s10038-006-0362-0
- By:
- Publication type:
- Article
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
- Published in:
- Case Reports in Pediatrics, 2020, p. 1, doi. 10.1155/2020/1370293
- By:
- Publication type:
- Article
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
- By:
- Publication type:
- Article
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
- By:
- Publication type:
- Article
Deficiencias de tetrahidrobiopterina (BH<sub>4</sub>): diagnóstico y tratamiento.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 319
- By:
- Publication type:
- Article
Fenilcetonuria (PKU) en adultos.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 290
- By:
- Publication type:
- Article
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 187, doi. 10.1186/s13023-014-0187-4
- By:
- Publication type:
- Article
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 535, doi. 10.1007/s10545-012-9525-7
- By:
- Publication type:
- Article
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
- By:
- Publication type:
- Article
Long‐term follow‐up with filter paper samples in patients with propionic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 44, doi. 10.1002/jmd2.12166
- By:
- Publication type:
- Article
A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 355, doi. 10.1002/humu.22242
- By:
- Publication type:
- Article
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
- Published in:
- 2021
- By:
- Publication type:
- letter
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.
- Published in:
- Antioxidants, 2022, v. 11, n. 8, p. N.PAG, doi. 10.3390/antiox11081588
- By:
- Publication type:
- Article