Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy-Reference-Cited by-同舟云学术

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

Published:2021-06-04 Issue:7 Volume:185 Page:2102-2107
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Debs Sarah¹²,Ferreira Carlos R.³,Groden Catherine³,Kim H. Jeffrey⁴,King Kelly A.⁴,King Monique C.⁵,Lehky Tanya¹,Cowen Edward W.⁶,Brown Laura H.⁷,Merideth Melissa³,Owen Carter M.³,Macnamara Ellen³^ORCID,Toro Camilo³,Gahl William A.³,Soldatos Ariane¹^ORCID

Affiliation:

1. National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland USA

2. Virginia Commonwealth University School of Medicine Richmond Virginia USA

3. National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

4. National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA

5. Rehabilitation Medicine Department National Institutes of Health Clinical Center Bethesda Maryland USA

6. National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health Bethesda Maryland USA

7. Johns Hopkins Community Physicians_North Bethesda Rockville MD USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62245

Reference29 articles.

1. A method and server for predicting damaging missense mutations

2. Clinical and metabolic consequences of L‐serine supplementation in hereditary sensory and autonomic neuropathy type 1C;Auranen M.;Cold Spring Harbor Molecular Case Studies,2017

3. Two new cases of serine deficiency disorders treated with l-serine

4. Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures

5. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

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