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Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
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- American Journal of Hematology, 2017, v. 92, n. 9, p. 929, doi. 10.1002/ajh.24801
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- Article
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 623, doi. 10.1002/acn3.198
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- Article
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1052, doi. 10.1002/ajmg.c.31870
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- Article
Mitochondrial ultrastructural defects in NDUFS3-related disorder.
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- Journal of Pediatric Neurosciences, 2021, v. 16, n. 4, p. 299, doi. 10.4103/jpn.JPN_182_20
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- Article
Encephalopathy in a Patient With Short Bowel Syndrome: Case Report and Discussion of the Pathophysiology.
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- JPEN Journal of Parenteral & Enteral Nutrition, 2014, v. 38, n. 4, p. 518, doi. 10.1177/0148607113496819
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- Article
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 83, doi. 10.1007/s10545-009-9026-5
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- Article
Clinical delineation of the PACS1-related syndrome-Report on 19 patients.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 670, doi. 10.1002/ajmg.a.37476
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- Article