Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke-Reference-Cited by-同舟云学术

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

Published:2021-09-30 Issue:1 Volume:62 Page:49-55
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Paz José A.¹,Embiruçu Emilia K.²³,Bueno Clarissa¹⁴,Ferreira Rafaela C. C. L.⁴,Oliveira Fernanda S.²,Pereira Ane S. S.²³,Schwartz Ida V. D.⁴⁵,Paiva Anderson R. B.⁶^ORCID,Lucato Leandro T.⁷,Kok Fernando¹⁴⁸

Affiliation:

1. Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil

2. Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil

3. Life Sciences Department University of the State of Bahia Salvador Brazil

4. Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil

5. Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil

6. Neurogenetics Unit, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil

7. Department of Radiology University of Sao Paulo School of Medicine Sao Paulo Brazil

8. Mendelics Genomic Analysis Sao Paulo Brazil

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12252

Reference8 articles.

1. Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

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

3. Familial hypermethioninemia partially responsive to dietary restriction

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

5. Adenosine Kinase Deficiency: Report and Review

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1. NRH, a potent NAD+ booster, improves glucose homeostasis and lipid metabolism in diet-induced obese mice though an active adenosine kinase pathway;2024-08-30

2. Inborn Errors of Purine Salvage and Catabolism;Metabolites;2023-06-24

3. Hypermethioninemia Due to Adenosine Kinase Deficiency;Genetic Syndromes;2023