Shedding light on NGLY1 deficiency: a call for awareness and support.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Works matching IS 2731085X AND DT 2023 AND VI 2 AND IP 1
Results: 12
1
2
Finerenone and other future therapeutic options for Alport syndrome.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00022-x
- By:
- Publication type:
- Article
3
Development of a phone application for assessing fatigue levels in rare disorders: a feasibility and validity study.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00021-y
- By:
- Publication type:
- Article
4
The National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD): rationale and design.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00020-z
- By:
- Publication type:
- Article
5
Finerenone and other future therapeutic options for Alport syndrome.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00022-x
- By:
- Publication type:
- Article
6
Positive impact of sulfamethoxazole-trimethoprim prophylaxis on prevention of severe infections in a patient with glycogen storage disease type Ib.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00023-w
- By:
- Publication type:
- Article
7
Insulin resistance syndrome presenting with diabetic ketoacidosis — a rare presentation.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
8
Overall assessment of patients with type 1 Gaucher disease: a single-centre's experience.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00019-6
- By:
- Publication type:
- Article
9
Many lessons still to learn about autosomal dominant polycystic kidney disease.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00017-8
- By:
- Publication type:
- Article
10
Swyer syndrome: a rare cause of primary amenorrhea.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00016-9
- By:
- Publication type:
- Article
11
Fibroadipose vascular anomaly successfully treated with sirolimus: experience in 3 children.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00015-w
- By:
- Publication type:
- Article
12
A case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome!
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00014-x
- By:
- Publication type:
- Article