Found: 19
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High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 9, p. 1156, doi. 10.1002/ajh.26276
- By:
- Publication type:
- Article
Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01061-3
- By:
- Publication type:
- Article
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01061-3
- By:
- Publication type:
- Article
Novel splice site <italic>IDUA</italic> gene mutation in Tunisian pedigrees with hurler syndrome.
- Published in:
- Diagnostic Pathology, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13000-018-0710-3
- By:
- Publication type:
- Article
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
- Published in:
- Diagnostic Pathology, 2016, v. 11, p. 1, doi. 10.1186/s13000-016-0498-y
- By:
- Publication type:
- Article
Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene.
- Published in:
- Neurodegenerative Diseases, 2013, v. 12, n. 4, p. 207, doi. 10.1159/000346680
- By:
- Publication type:
- Article
Alagille Syndrome: Challenging Diagnosis and Prognostic Factors, A Case Report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 11, p. 1170, doi. 10.1002/ajh.24877
- By:
- Publication type:
- Article
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 3, p. 166, doi. 10.1002/ajh.23381
- By:
- Publication type:
- Article
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 3, p. 179, doi. 10.1002/ajh.23382
- By:
- Publication type:
- Article
Congenital Chloride Diarrhea in Two Yemeni Siblings.
- Published in:
- Bahrain Medical Bulletin, 2018, v. 40, n. 3, p. 178
- By:
- Publication type:
- Article
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1.
- Published in:
- JAMA: Journal of the American Medical Association, 2015, v. 313, n. 7, p. 695, doi. 10.1001/jama.2015.459
- By:
- Publication type:
- Article
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
- Published in:
- Diagnostic Pathology, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13000-022-01221-8
- By:
- Publication type:
- Article
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
- Published in:
- Biochemistry & Cell Biology, 2016, v. 94, n. 3, p. 265, doi. 10.1139/bcb-2015-0168
- By:
- Publication type:
- Article