Genotype–phenotype correlation of 33 patients with maple syrup urine disease-Reference-Cited by-同舟云学术

Genotype–phenotype correlation of 33 patients with maple syrup urine disease

Published:2020-08-19 Issue:11 Volume:182 Page:2486-2500
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Khalifa Ola A.¹,Imtiaz Faiqa²,Ramzan Khushnooda²,Zaki Osama¹,Gamal Radwa¹,Elbaik Lina²,Rihan Shaimaa³,Salam Ehab¹,Abdul‐Mawgoud Rehab¹,Hassan Magdy³,Hassan Nahla³,Saleh Eman³,Seoudi Dina³,Moustafa Amr S.⁴^ORCID

Affiliation:

1. Genetics Unit, Department of Pediatrics, Faculty of Medicine Ain Shams University Cairo Egypt

2. Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

3. Department of Biochemistry, Faculty of Science Ain Shams University Cairo Egypt

4. Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine Ain Shams University Cairo Egypt

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61806

Reference38 articles.

1. Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations

2. A method and server for predicting damaging missense mutations

3. Intermittent Maple Syrup Urine Disease: Two Case Reports

4. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β

5. Bioinformatics analysis of the epitope regions for norovirus capsid protein

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Long‐Term Amino Acid Homeostasis, Neurodevelopmental and Growth Profiles Following Liver Transplantation in Maple Syrup Urine Disease;Pediatric Transplantation;2024-08-19

2. A comparative cross-platform analysis of cuproptosis-related genes in human nonobstructive azoospermia: An observational study;Medicine;2024-08-02

3. Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China;QJM: An International Journal of Medicine;2024-06-05

4. Newborn screening of maple syrup urine disease and the effect of early diagnosis;Clinica Chimica Acta;2023-08

5. Identification of a novel homozygous mutation of the BCKDHB gene in an Iranian patient with maple syrup disease using next-generation sequencing;Human Gene;2023-05