Found: 13
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Enzyme replacement therapy for Gaucher disease in twin pregnancy
- Published in:
- 2009
- By:
- Publication type:
- journal article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. 520, doi. 10.1111/ped.12281
- By:
- Publication type:
- Article
Adultní forma Pompeho nemoci.
- Published in:
- Neurologie Pro Praxi, 2021, v. 22, n. 4, p. 325
- By:
- Publication type:
- Article
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
- Published in:
- Clinical Rheumatology, 2014, v. 33, n. 5, p. 725, doi. 10.1007/s10067-013-2423-z
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- Publication type:
- Article
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 9, p. 3040, doi. 10.1111/ene.14955
- By:
- Publication type:
- Article
<sup>1</sup>H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.
- Published in:
- MAGMA: Magnetic Resonance Materials in Physics, Biology & Medicine, 2008, v. 21, n. 5, p. 327, doi. 10.1007/s10334-008-0137-z
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- Publication type:
- Article
Oculomotor and Vestibular Findings in gaucher Disease Type 3 and Their correlation with neurological Findings.
- Published in:
- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2017.00711
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- Publication type:
- Article
Cataplexy and Sleep Disorders in Niemann-Pick Type C Disease.
- Published in:
- Current Neurology & Neuroscience Reports, 2015, v. 15, n. 1, p. 1, doi. 10.1007/s11910-014-0522-0
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- Publication type:
- Article
Sebelipase alfa for lysosomal acid lipase deficiency: 5‐year treatment experience from a phase 2 open‐label extension study.
- Published in:
- Liver International, 2020, v. 40, n. 9, p. 2203, doi. 10.1111/liv.14603
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- Publication type:
- Article
Clinical Features of Lysosomal Acid Lipase Deficiency.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14440, doi. 10.3390/ijms241914440
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- Publication type:
- Article