A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the <scp>S135L</scp> (c. <scp>404C</scp> > T) variant of <scp> <i>GALT</i> </scp>-Reference-Cited by-同舟云学术

A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c. 404C > T) variant of GALT

Published:2022-09-26 Issue:6 Volume:45 Page:1106-1117
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Katler Quinton S.¹,Stepien Karolina M.²,Paull Nathan³,Patel Sneh⁴,Adams Michael⁵,Balci Mehmet Cihan⁶,Berry Gerard T.⁷,Bosch Annet M.⁸,DeLaO Angela⁹,Demirbas Didem⁷,Edman Julianna¹⁰,Ficicioglu Can¹¹,Goff Melanie¹²,Hacker Stephanie¹³,Knerr Ina¹⁴,Lancaster Kristen⁵,Li Hong¹⁵,Mendelsohn Bryce A.¹⁶,Nichols Brandi¹⁷,de Rezende Pinto Wladimir Bocca Vieira¹⁸,Rocha Júlio César¹⁹²⁰²¹,Rubio‐Gozalbo M. Estela²²,Saad‐Naguib Michael¹³,Scholl‐Buergi Sabine²³,Searcy Sarah¹²,de Souza Paulo Victor Sgobbi²⁴,Wittenauer Angela³,Fridovich‐Keil Judith L.³^ORCID

Affiliation:

1. Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics Emory University School of Medicine Atlanta Georgia USA

2. Adult Inherited Metabolic Diseases Department Salford Royal Foundation NHS Trust Salford UK

3. Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA

4. Neuroscience and Behavioral Biology Program, Emory University Atlanta Georgia USA

5. Division of Pediatric Genetics and Metabolism, UNC School of Medicine Chapel Hill North Carolina USA

6. Department of Pediatric Metabolic Disease, Istanbul Medical School Istanbul Turkey

7. Division of Genetics and Genomics, Department of Pediatrics The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

8. Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Department of Pediatrics Emma Children's Hospital, Amsterdam UMC location University of Amsterdam Amsterdam The Netherlands

9. Wasatch Pediatrics Salt Lake City Utah USA

10. Department of Pediatric Genetics University of Illinois‐Chicago Chicago Illinois USA

11. Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia Perelman School of Medicine at The University of Pennsylvania Philadelphia Pennsylvania USA

12. Division of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

13. Department of Human Genetics University of Miami Miller School of Medicine Miami Florida USA

14. National Centre for Inherited Metabolic Disorders Temple St. Children's University Hospital Dublin Ireland

15. Departments of Human Genetics and Pediatrics Emory University School of Medicine Atlanta Georgia USA

16. Department of Genetics Oakland Medical Center, Kaiser Permanente Oakland California USA

17. Department of Clinical Nutrition Arkansas Children's Hospital Little Rock Arkansas USA

18. Division of Neuromuscular Diseases Universidade Federal de São Paulo (UNIFESP) São Paulo Brazil

19. Nutrition & Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa Lisbon Portugal

20. Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central Lisbon Portugal

21. Center for Health Technology and Services Research (CINTESIS), NOVA Medical School, Lisbon, Portugal Lisbon Portugal

22. Department of Pediatrics, Department of Clinical Genetics, GROW‐School for Oncology and Reproduction, European Reference Network for Hereditary Metabolic Disorders (MetabERN) member and United for Metabolic Diseases Member Maastricht University Medical Centre Maastricht The Netherlands

23. Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria

24. Division of Neuromuscular Diseases Federal University of São Paulo (UNIFESP) São Paulo Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12556

Reference33 articles.

1. Structure and Function of Enzymes of the Leloir Pathway for Galactose Metabolism

2. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency

3. Biosynthesis and Composition of Milk

4. The natural history of classic galactosemia: lessons from the GalNet registry

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