Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course-Reference-Cited by-同舟云学术

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Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course

Published:2021-03-17 Issue:6 Volume:185 Page:1870-1874
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.¹^ORCID,Miller Dana²,Pierpont Elizabeth I.³^ORCID,Berry Susan A.¹,Aggarwal Anjali¹

Affiliation:

1. Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA

2. M Health Fairview Minneapolis Minnesota USA

3. Division of Clinical Behavioral Neuroscience, Department of Pediatrics University of Minnesota, Minneapolis Minneapolis Minnesota USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62170

Reference14 articles.

1. Pigmentation in vitamin B12 deficiency masquerading Addison′s pigmentation: A rare presentation

2. Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience

3. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

4. Purification and interaction analyses of two human lysosomal vitamin B12transporters: LMBD1 and ABCD4

5. Dermatological findings of vitamin B12 deficiency and resolving time of these symptoms

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