Found: 27
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Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients.
- Published in:
- Movement Disorders, 2008, v. 23, n. 16, p. 2392, doi. 10.1002/mds.22313
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- Publication type:
- Article
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 118, doi. 10.1007/s00439-003-0946-0
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- Article
Betaine anhydrous in homocystinuria: results from the RoCH registry.
- Published in:
- 2019
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- Publication type:
- journal article
First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 21, p. 5345, doi. 10.3390/ijms20215345
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- Publication type:
- Article
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 577, doi. 10.1038/sj.ejhg.5200675
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- 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
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- Publication type:
- Article
Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 2, p. 925, doi. 10.1210/jc.2003-030941
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- Publication type:
- Article
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0266-1
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- Publication type:
- Article
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 58, doi. 10.1186/s13023-015-0266-1
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- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
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- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- 2013
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- Publication type:
- journal article
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 848, doi. 10.1002/jimd.12504
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- Publication type:
- Article
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 215, doi. 10.1002/jimd.12452
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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
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
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- 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
Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit.
- Published in:
- 2007
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- Publication type:
- journal article
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
- Published in:
- 2002
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- Publication type:
- journal 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
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- Publication type:
- Article
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 11, doi. 10.1002/jmd2.12020
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- Publication type:
- Article
Les nouvelles maladies héréditaires du métabolisme du programme français de dépistage néonatal.
- Published in:
- Médecine Sciences, 2021, v. 37, n. 5, p. 507, doi. 10.1051/medsci/2021057
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- Publication type:
- Article
Le mot des coordinateurs - L'irrésistible ascension du dépistage néonatal.
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- Médecine Sciences, 2021, v. 37, n. 5, p. 431, doi. 10.1051/medsci/2021055
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- Publication type:
- Article
Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred.
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- Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 162, doi. 10.1111/dmcn.12045
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- Publication type:
- Article
Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 1012, doi. 10.1111/j.1469-8749.2012.04400.x
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- Publication type:
- Article
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 2, p. e1, doi. 10.1111/j.1469-8749.2009.03541.x
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- 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
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- Article
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 11, p. 3229, doi. 10.1111/ene.15515
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- 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
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- Publication type:
- Article