Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia-Reference-Cited by-同舟云学术

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia

Published:2020-08-03 Issue:6 Volume:43 Page:1205-1218
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Ahtam Banu¹²³,Waisbren Susan E.⁴⁵,Anastasoaie Vera⁵,Berry Gerard T.¹⁵⁶,Brown Matthew⁵,Petrides Stephanie⁵,Afacan Onur⁷⁸,Prabhu Sanjay P.⁸,Schomer Donald⁹,Grant P. Ellen¹²³,Greenstein Patricia E.⁹^ORCID

Affiliation:

1. Department of Pediatrics Harvard Medical School Boston Massachusetts USA

2. Fetal‐Neonatal Neuroimaging & Developmental Science Center Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

3. Division of Newborn Medicine Boston Children's Hospital Boston Massachusetts USA

4. Department of Medicine Harvard Medical School Boston Massachusetts USA

5. Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA

6. The Manton Center for Orphan Disease Research Boston Children's Hospital Boston Massachusetts USA

7. Computational Radiology Laboratory, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

8. Department of Radiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

9. Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School Boston Massachusetts USA

Funder

Galactosemia Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12279

Reference71 articles.

1. Cognitive functioning, neurologic status and brain imaging in classical galactosemia

2. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population

3. Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants

4. Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

5. Long-term prognosis in galactosaemia: Results of a survey of 350 cases

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