Found: 21
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What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
- Published in:
- 2005
- By:
- Publication type:
- journal article
?<sup>1</sup>-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
- Published in:
- European Journal of Pediatrics, 2005, v. 164, n. 1, p. 31, doi. 10.1007/s00431-004-1545-3
- By:
- Publication type:
- Article
A risk factor for chronic mild hyperammonaemia.
- Published in:
- 2002
- By:
- Publication type:
- Letter
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
- By:
- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 8, p. 757, doi. 10.1002/pd.1970150812
- By:
- Publication type:
- Article
Respiratory Chain Defects May Present Only with Hypoglycemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3780, doi. 10.1210/jc.2005-0009
- By:
- Publication type:
- Article
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1057, doi. 10.1038/ejhg.2010.72
- By:
- Publication type:
- Article
Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease.
- Published in:
- Intensive Care Medicine, 2001, v. 27, n. 11, p. 1798, doi. 10.1007/S00134-001-1124-2
- By:
- Publication type:
- Article
Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 1, p. 121, doi. 10.1002/ana.20709
- By:
- Publication type:
- Article
Multiple sources of metabolic disturbance in ETHE1‐related ethylmalonic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y
- By:
- Publication type:
- Article
Management of West Syndrome in a Patient With Methylmalonic Aciduria.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 1, p. 94, doi. 10.1177/0883073809336119
- By:
- Publication type:
- Article
Clinical and biochemical heterogeneity associated with fumarase deficiency.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1046, doi. 10.1002/humu.21534
- By:
- Publication type:
- Article
Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 21, p. 3263, doi. 10.1093/hmg/ddi359
- By:
- Publication type:
- Article
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ [sup 1]-pyrroline-5-carboxylate synthase.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2853, doi. 10.1093/hmg/9.19.2853
- By:
- Publication type:
- Article
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
- Published in:
- Human Mutation, 1998, v. 11, p. S81, doi. 10.1002/humu.1380110128
- By:
- Publication type:
- Article
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
- Published in:
- Human Mutation, 1996, v. 8, n. 4, p. 373, doi. 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#
- By:
- Publication type:
- Article
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 74, doi. 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O
- By:
- Publication type:
- Article
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 5, p. 831
- By:
- Publication type:
- Article