Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants-Reference-Cited by-同舟云学术

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

Published:2021-01-27 Issue:1 Volume:59 Page:60-68
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Limgala Renuka Pudi¹^ORCID,Furtak Vyacheslav¹,Ivanova Margarita M.¹,Changsila Erk¹,Wilks Floyd²,Fidelia‐Lambert Marie N.³,Goker‐Alpan Ozlem¹^ORCID,Gondré‐Lewis Marjorie C.²

Affiliation:

1. Lysosomal and Rare Disorders Research and Treatment Center Fairfax Virginia USA

2. Developmental Neuropsychopharmacology Laboratory, Department of Anatomy Howard University College of Medicine Washington District of Columbia USA

3. Department of Pathology Howard University Hospital Washington District of Columbia USA

Funder

National Center for Advancing Translational Sciences

Pfizer

Shire

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12201

Reference28 articles.

1. Gaucher Disease and Its Treatment Options

2. Optimal therapy in Gaucher disease

3. Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease

4. Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

5. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

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1. Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks;Molecular Genetics and Metabolism Reports;2022-12

2. Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations;Frontiers in Pediatrics;2022-09-28

3. The Opioid Epidemic: a Crisis Disproportionately Impacting Black Americans and Urban Communities;Journal of Racial and Ethnic Health Disparities;2022-09-06

4. Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis;Journal of Pediatric Hematology/Oncology;2022-07-22