Search Result "hemizygotes"

Treatment of Fabry Disease: Current and Emerging Strategies

Journal: Current Pharmaceutical Biotechnology
Volume: 12 Issue: 6 Year: 2011 Page: 916-922
Author(s): Paula Rozenfeld, Pablo M. Neumann

Case Report

A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 8 Year: 2022 Page: 881-887
Author(s): Farzaneh Hosseini Gharalari

The Role of Ceramide Trihexoside (Globotriaosylceramide) in the Diagnosis and Follow-Up of the Efficacy of Treatment of Fabry Disease: A Review of the Literature

Journal: Cardiovascular & Hematological Agents in Medicinal Chemistry
Volume: 4 Issue: 4 Year: 2006 Page: 289-297
Author(s): Soumeya Bekri, Olivier Lidove, Roland Jaussaud, Bertrand Knebelmann, Frederic Barbey

Case Report

A Mutation in the CACNA1F Gene Found by Whole Exome Sequencing(WES) and In Silico Analysis in an Iranian Family with ConsanguineousRelationships

Journal: Current Aging Science
Volume: 18 Issue: 1 Year: 2025 Page: 80-85
Author(s):

Neuroimaging Correlates of 22q11.2 Deletion Syndrome: Implications for Schizophrenia Research

Journal: Current Topics in Medicinal Chemistry
Volume: 12 Issue: 21 Year: 2012 Page: 2303-2313
Author(s): E. Boot,T.A.M.J. van Amelsvoort

Gastroenterological Complications of Anderson-Fabry Disease

Journal: Current Pharmaceutical Design
Volume: 19 Issue: 3 Year: 2013 Page: 6009-6013
Author(s): Piotr Buda, Janusz Ksi azyk, Anna Tylki-Szyma ska

Research Article

A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome

Journal: Current Molecular Medicine
Volume: 19 Issue: 10 Year: 2019 Page: 758-765
Author(s): Yuan Wu,Yi Guo,Jinzhong Yuan,Hongbo Xu,Yong Chen,Hao Zhang,Mingyang Yuan,Hao Deng,Lamei Yuan

Cutaneous Complications of Anderson-Fabry Disease

Journal: Current Pharmaceutical Design
Volume: 19 Issue: 3 Year: 2013 Page: 6031-6036
Author(s): Giuseppe Pistone, Daniele Rizzo, Maria Rita Bongiorno

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

Journal: Current Genomics
Volume: 11 Issue: 8 Year: 2010 Page: 607-617
Author(s): Paulina Carmona-Mora, Katherina Walz

Review Article

Biomarkers for Diagnosing and Staging of Fabry Disease

Journal: Current Medicinal Chemistry
Volume: 25 Issue: 13 Year: 2018 Page: 1530-1537
Author(s): Johannes Kramer,Frank Weidemann

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