ASAH1 ‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype-Reference-Cited by-同舟云学术

ASAH1 ‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

Published:2020-09-02 Issue:6 Volume:98 Page:598-605
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Mahmoud Iman G.¹,Elmonem Mohamed A.²^ORCID,Zaki Maha S.³^ORCID,Ramadan Areef¹,Al‐Menabawy Nihal M.¹,El‐Gamal Aya¹,Mansour Lobna¹,Issa Mahmoud Y.³,Abdel‐Hamid Mohamed S.⁴^ORCID,Abdel‐Hady Sawsan¹,Khalifa Iman⁵,Ibrahim Ahmed⁶,Solyom Alexander⁷,Rolfs Arndt⁸,Selim Laila¹

Affiliation:

1. Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine Cairo University Cairo Egypt

2. Clinical and Chemical Pathology Department, Faculty of Medicine Cairo University Cairo Egypt

3. Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Giza Egypt

4. Medical Molecular Genetics, Human Genetics and Genome Research Division National Research Centre Giza Egypt

5. Pediatrics Department Helwan University Cairo Egypt

6. Pediatrics Department Suez Canal University Ismailia Egypt

7. Enzyvant Basel Switzerland

8. Albrecht‐Kossel‐Institute for Neurodegeneration, Rostock University Medical‐Centre and Centogene AG Rostock Germany

Funder

Cairo University

National Research Centre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13834

Reference15 articles.

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3. Lipogranulomatosis; a new lipo‐glycoprotein storage disease;Farber S;J Mt Sinai Hosp NY,1957

4. Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

5. Molecular Cloning and Characterization of a Full-length Complementary DNA Encoding Human Acid Ceramidase

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1. Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum;Italian Journal of Pediatrics;2023-06-06

2. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions;Biomolecules;2023-02-01

3. The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile;Annals of Clinical and Translational Neurology;2022-11-03