The 1‐ 13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes-Reference-Cited by-同舟云学术

The 1‐ 13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

Published:2020-01-22 Issue:3 Volume:43 Page:507-517
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Welsink‐Karssies Mendy M.¹^ORCID,Harskamp Dewi²,Ferdinandusse Sacha³,Hollak Carla E. M.⁴,Huidekoper Hidde H.⁵,Janssen Mirian C. H.⁶,Kemper E. Marleen⁷,Langendonk Janneke G.⁸,Rubio‐Gozalbo M. Estela⁹,Vries Maaike C.¹⁰,Wijburg Frits A.¹,Schierbeek Henk²,Bosch Annet M.¹

Affiliation:

1. Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands

2. Department of Pediatrics, Stable Isotope Laboratory, Emma Children's Hospital, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands

3. Laboratory Genetic Metabolic Diseases, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands

4. Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands

5. Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands

6. Department of Internal Medicine Radboud University Medical Center Nijmegen The Netherlands

7. Department of Pharmacy, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands

8. Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Centre Rotterdam Rotterdam The Netherlands

9. Department of Pediatrics and Department of Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands

10. Department of Pediatrics Radboud University Medical Center Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12207

Reference26 articles.

1. Classical galactosaemia revisited

2. Outcomes of Siblings with Classical Galactosemia

3. Hypergonadotropic Hypogonadism in Female Patients with Galactosemia

4. Long-term Follow-up of Galactosaemia

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1. Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways;Journal of Inherited Metabolic Disease;2022-08-25

2. Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer;Clinical Nutrition;2021-03

3. The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes;Molecular Genetics and Metabolism;2020-03