Found: 22
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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
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- Publication type:
- Article
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
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- Publication type:
- Article
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 364, doi. 10.1007/s00439-003-0909-5
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- Publication type:
- Article
Health-Related Quality of Life in Patients with MPS II.
- Published in:
- Journal of Genetic Counseling, 2015, v. 24, n. 4, p. 635, doi. 10.1007/s10897-014-9791-7
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- Publication type:
- Article
MPS II: Adaptive Behavior of Patients and Impact on the Family System.
- Published in:
- Journal of Genetic Counseling, 2014, v. 23, n. 3, p. 330, doi. 10.1007/s10897-013-9665-4
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- Publication type:
- Article
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.
- Published in:
- 2015
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- 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
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- Publication type:
- Article
Trichothiodystrophy: Clinical Spectrum, Central Nervous System Imaging, and Biochemical Characterization of Two Siblings.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, p. 154S, doi. 10.1111/1523-1747.ep12399493
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- Publication type:
- Article
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin-responsive disorder.
- Published in:
- Annals of Neurology, 1980, v. 8, n. 5, p. 544, doi. 10.1002/ana.410080514
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- Publication type:
- Article
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 7, p. 2102, doi. 10.1093/ndt/gfp031
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- Publication type:
- Article
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
- Published in:
- 2007
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- Publication type:
- journal article
Agalsidase-Beta Therapy for Advanced Fabry Disease.
- Published in:
- Annals of Internal Medicine, 2007, v. 146, n. 2, p. 77, doi. 10.7326/0003-4819-146-2-200701160-00148
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- Publication type:
- Article
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy.
- Published in:
- Annals of Internal Medicine, 2003, v. 138, n. 4, p. 338, doi. 10.7326/0003-4819-138-4-200302180-00014
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- Publication type:
- Article
USE OF AMNIOTIC FLUID AMINO ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINAEMIA.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 5, p. 419, doi. 10.1002/(SICI)1097-0223(199605)16:5<419::AID-PD872>3.0.CO;2-7
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- Publication type:
- Article
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 191, doi. 10.1007/s10545-010-9077-7
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- Publication type:
- Article
Psychosocial Issues in Families Affected by Maple Syrup Urine Disease.
- Published in:
- Journal of Genetic Counseling, 2007, v. 16, n. 6, p. 799, doi. 10.1007/s10897-007-9114-3
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- Publication type:
- Article
Prenatal Treatment of Biotin-responsive Multiple Carboxylase Deficiency<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 447, n. 1, p. 414, doi. 10.1111/j.1749-6632.1985.tb18463.x
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- Publication type:
- Article
Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1130, doi. 10.1002/ajmg.a.61533
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- Publication type:
- Article
The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 5, p. 695, doi. 10.1093/hmg/6.5.695
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- Publication type:
- Article
A Repeated Element in the Regulatory Region of the MNK Gene and Its Deletion in A Patient With Occipital Horn Syndrome.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1737, doi. 10.1093/hmg/5.11.1737
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- Publication type:
- Article
A distinct variant of intermediate maple syrup urine disease.
- Published in:
- Clinical Genetics, 1985, v. 27, n. 2, p. 153, doi. 10.1111/j.1399-0004.1985.tb00203.x
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- Publication type:
- Article
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and α-galactosidase A activity.
- Published in:
- European Heart Journal, 2010, v. 31, n. 9, p. 1088
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- Publication type:
- Article