Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations-Reference-Cited by-同舟云学术

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations

Published:2019-01-11 Issue:4 Volume:95 Page:537-539
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Mahmoud Iman G.¹,Elmonem Mohamed A.²^ORCID,Elkhateeb Nour M.¹,Elnaggar Walaa¹,Sobhi Ahmed¹,Girgis Marian Y.¹,Kamel Mona¹,Shaheen Yara¹,Samaha Mona¹,Ramadan Areef¹,Zaki Maha S.³^ORCID,El-Hawary Bahaa⁴,Hassan Sawsan A.¹,Khalifa Iman A.¹,Mossad Fawzya¹,Al-Menabawy Nihal M.¹,Zielke Susanne⁵⁶,Gleeson Joseph G.⁷,Rolfs Arndt⁵⁶,Selim Laila A.¹

Affiliation:

1. Pediatric Neurology Department; Cairo University; Cairo Egypt

2. Clinical and Chemical Pathology Department; Cairo University; Cairo Egypt

3. Clinical Genetics Department; National Research Centre; Cairo Egypt

4. Pediatrics Department; Aswan University; Aswan Egypt

5. Albrecht-Kossel-Institute for Neurodegeneration; Rostock University Medical Centre; Rostock Germany

6. Centogene AG; Rostock Germany

7. Neuroscience Department, Howard Hughes Medical Institute; University of California; San Diego California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13492/fullpdf

Reference14 articles.

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2. Miglustat in Niemann-pick disease type C patients: a review;Pineda;Orphanet J Rare Dis,2018

3. A novel, highly sensitive and specific biomarker for Niemann-pick type C1 disease;Giese;Orphanet J Rare Dis,2015

4. The impact of biomarkers analysis in the diagnosis of Niemann-pick C disease and acid sphingomyelinase deficiency;Deodato;Clin Chim Acta,2018

5. Lysosomal stotage disorders in Egyptian children;Elmonem;Indian J Pediatr,2016

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3. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease;International Journal of Molecular Sciences;2020-07-17

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