Clinical utility of methionine restriction in adenosine kinase deficiency-Reference-Cited by-同舟云学术

Clinical utility of methionine restriction in adenosine kinase deficiency

Published:2021-07-27 Issue:1 Volume:61 Page:52-59
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Almuhsen Najmah¹^ORCID,Guay Simon‐pierre¹,Lefrancois Marie¹,Gauvin Cheryl¹,Al Bahlani AL Qasim²,Ahmed Najma²,Saint‐Martin Christine³,Gagnon Tommy⁴,Waters Paula⁴,Braverman Nancy⁵⁶,Buhas D.¹⁵

Affiliation:

1. Division of Genetics, Department of Specialized Medicine McGill University Health Center Montréal Quebec Canada

2. Division of Pediatric Gastroenterology, Department of Pediatrics McGill University Health Center Montréal Quebec Canada

3. Department of Radiology McGill University Health Center, Montreal Children's Hospital Montreal Quebec Canada

4. Medical Genetics Service, Department of Pediatrics and of Laboratory Medicine Université de Sherbrooke‐CHUS Sherbrooke Quebec Canada

5. Department of Human Genetics McGill University Montréal Quebec Canada

6. Department of Pediatrics McGill University Montréal Quebec Canada

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12238

Reference17 articles.

1. Adenosine Kinase Deficiency: Report and Review

2. Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

3. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

4. Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: a case report;Shakiba M;Adv Rare Diseases,2016

5. Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia

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