Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency-Reference-Cited by-同舟云学术

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

Published:2020-09-10 Issue:11 Volume:182 Page:2781-2787
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Pillai Nishitha R.¹²^ORCID,Amin Hitha²³,Gijavanekar Charul⁴,Liu Ning¹,Issaq Niveen⁵,Broniowska Katarzyna A.⁶,Bertuch Alison A.¹²⁷,Sutton V. Reid¹²,Elsea Sarah H.¹,Scaglia Fernando¹²⁸

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Texas Children's Hospital Houston Texas USA

3. Department of Neurology Baylor College of Medicine Houston Texas USA

4. Baylor Genetics Houston Texas USA

5. Department of Pathology and Immunology Baylor College of Medicine Houston Texas USA

6. Metabolon Inc. Morrisville North Carolina USA

7. Department of Pediatrics Hematology/Oncology, Baylor College of Medicine Houston Texas USA

8. Joint BCM‐CUHK Center of Medical Genetics Prince of Wales Hospital Shatin Hong Kong SAR

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61851

Reference38 articles.

1. Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

2. Structural basis of kynurenine 3-monooxygenase inhibition

3. The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

4. Disorders of riboflavin metabolism

5. Genetic heterogeneity of motor neuropathies

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