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Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
- Published in:
- Human Genetics, 2023, v. 142, n. 5, p. 697, doi. 10.1007/s00439-023-02523-7
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- Article
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
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- Publication type:
- journal article
Inborn errors of metabolism leading to neuronal migration defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 145, doi. 10.1002/jimd.12194
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- Article
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 451, doi. 10.1002/jimd.12054
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- Article
Liver transplantation for neonatal-onset citrullinemia.
- Published in:
- Pediatric Transplantation, 2018, v. 22, n. 4, p. 1, doi. 10.1111/petr.13191
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- Article
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 171, doi. 10.1007/s10545-016-9990-5
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- Article
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6
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- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
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- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- 2014
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- Publication type:
- journal article
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1039, doi. 10.1007/s10545-013-9594-2
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- Publication type:
- Article
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.
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- PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002427
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- Article
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 923, doi. 10.1007/s10545-011-9325-5
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- Publication type:
- Article
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
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- Glycobiology, 2005, v. 15, n. 12, p. 1312, doi. 10.1093/glycob/cwj017
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- Article
Defective protein glycosylation in patients with cutis laxa syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361
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- Publication type:
- Article
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
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- Human Genetics, 2000, v. 106, n. 5, p. 538, doi. 10.1007/s004390050022
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- Publication type:
- Article