Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 10, doi. 10.1002/jmd2.12405
- By:
- Publication type:
- Article
Works matching IS 21928312 AND DT 2024 AND VI 65 AND IP 1
Results: 6
1
2
Diagnostic delay in late‐onset Pompe disease among Chinese patients: A retrospective study.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 39, doi. 10.1002/jmd2.12404
- By:
- Publication type:
- Article
3
Psychosocial issues and coping strategies in families affected by long‐chain fatty acid oxidation disorders.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 25, doi. 10.1002/jmd2.12402
- By:
- Publication type:
- Article
4
Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 17, doi. 10.1002/jmd2.12401
- By:
- Publication type:
- Article
5
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 3, doi. 10.1002/jmd2.12400
- By:
- Publication type:
- Article
6
Issue Information.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 1, doi. 10.1002/jmd2.12368
- Publication type:
- Article