Found: 15
Select item for more details and to access through your institution.
Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 105, doi. 10.1002/jmd2.12163
- By:
- Publication type:
- Article
Issue Information.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 1, doi. 10.1002/jmd2.12180
- Publication type:
- Article
Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 40, doi. 10.1002/jmd2.12165
- By:
- Publication type:
- Article
Neonatal carnitine concentrations in relation to gestational age and weight.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
- By:
- Publication type:
- Article
Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 34, doi. 10.1002/jmd2.12161
- By:
- Publication type:
- Article
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 27, doi. 10.1002/jmd2.12160
- By:
- Publication type:
- Article
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 20, doi. 10.1002/jmd2.12159
- By:
- Publication type:
- Article
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 58, doi. 10.1002/jmd2.12151
- By:
- Publication type:
- Article
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 14, doi. 10.1002/jmd2.12158
- By:
- Publication type:
- Article
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 82, doi. 10.1002/jmd2.12156
- By:
- Publication type:
- Article
Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 3, doi. 10.1002/jmd2.12155
- By:
- Publication type:
- Article
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 70, doi. 10.1002/jmd2.12153
- By:
- Publication type:
- Article
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 9, doi. 10.1002/jmd2.12157
- By:
- Publication type:
- Article
Defective platelet function in Niemann‐Pick disease type C1.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 46, doi. 10.1002/jmd2.12148
- By:
- Publication type:
- Article
Correction to: Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late‐Onset Pompe Disease: A Case Report.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 112, doi. 10.1002/jmd2.12134
- Publication type:
- Article