Found: 16
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Isolated neurological presentations of mevalonate kinase deficiency.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 42, doi. 10.1002/jmd2.12347
- By:
- Publication type:
- Article
Recommendations on the follow‐up of patients with Gaucher disease in Spain: Results from a Delphi survey.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 90, doi. 10.1002/jmd2.12342
- By:
- Publication type:
- Article
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 114, doi. 10.1002/jmd2.12345
- By:
- Publication type:
- Article
Suicidal attempt with eliglustat overdose.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 104, doi. 10.1002/jmd2.12343
- By:
- Publication type:
- Article
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
The Swedish COG6‐CDG experience and a comprehensive literature review.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 79, doi. 10.1002/jmd2.12338
- By:
- Publication type:
- Article
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Infantile‐onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Clinical features of Japanese patients with acute hepatic porphyria.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 71, doi. 10.1002/jmd2.12336
- By:
- Publication type:
- Article
Issue Information.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 1, doi. 10.1002/jmd2.12296
- Publication type:
- Article
Transcriptomic study in explanted liver from a patient with acute intermittent porphyria.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 10, doi. 10.1002/jmd2.12329
- By:
- Publication type:
- Article
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 57, doi. 10.1002/jmd2.12334
- By:
- Publication type:
- Article
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 65, doi. 10.1002/jmd2.12335
- By:
- Publication type:
- Article