Found: 15
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GYG1: A distal myopathy with polyglucosan bodies.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 88, doi. 10.1002/jmd2.12129
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- Article
Neonatal presentation of COG6‐CDG with prominent skin phenotype.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 51, doi. 10.1002/jmd2.12154
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- Article
Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 44, doi. 10.1002/jmd2.12152
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- Article
Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 38, doi. 10.1002/jmd2.12149
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- Article
Improved electroretinographic responses following dietary intervention in a patient with Refsum disease.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 32, doi. 10.1002/jmd2.12147
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- Article
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 26, doi. 10.1002/jmd2.12146
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- Article
Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 22, doi. 10.1002/jmd2.12145
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- Article
Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 15, doi. 10.1002/jmd2.12144
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- Article
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 75, doi. 10.1002/jmd2.12137
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- Article
Correction to: Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidaemia and cardiomyopathy: a case report on a medication prescribing error.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 91, doi. 10.1002/jmd2.12136
- Publication type:
- Article
Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 12, doi. 10.1002/jmd2.12135
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- Article
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 68, doi. 10.1002/jmd2.12132
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- Article
Use of carglumic acid in valproate‐induced hyperammonemia: 25 pediatric cases.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 3, doi. 10.1002/jmd2.12131
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- Article
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 59, doi. 10.1002/jmd2.12130
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- Publication type:
- Article
Issue Information.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 1, doi. 10.1002/jmd2.12105
- Publication type:
- Article