Sex‐specific newborn screening for <scp>X‐linked</scp> adrenoleukodystrophy-Reference-Cited by-同舟云学术

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Published:2022-10-26 Issue:1 Volume:46 Page:116-128
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Albersen Monique¹,van der Beek Samantha L.²,Dijkstra Inge M. E.³,Alders Mariëlle⁴,Barendsen Rinse W.³,Bliek Jet⁴,Boelen Anita¹,Ebberink Merel S.³,Ferdinandusse Sacha³,Goorden Susan M. I.³,Heijboer Annemieke C.¹⁵,Jansen Mandy⁶,Jaspers Yorrick R. J.³,Metgod Ingrid¹,Salomons Gajja S.³⁷,Vaz Frédéric M.³,Verschoof‐Puite Rendelien K.⁶,Visser Wouter F.²,Dekkers Eugènie⁸,Engelen Marc⁷^ORCID,Kemp Stephan³^ORCID

Affiliation:

1. Endocrine Laboratory, Department of Clinical Chemistry Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam The Netherlands

2. Reference Laboratory for Neonatal Screening, Center for Health Protection National Institute for Public Health and the Environment (RIVM) Bilthoven The Netherlands

3. Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam The Netherlands

4. Department of Human Genetics Amsterdam UMC location University of Amsterdam, Amsterdam Reproduction & Development Amsterdam The Netherlands

5. Endocrine Laboratory, Department of Clinical Chemistry Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam The Netherlands

6. Department for Vaccine Supply and Prevention Programs National Institute for Public Health and the Environment (RIVM) Bilthoven The Netherlands

7. Department of Pediatric Neurology Amsterdam UMC location University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience Amsterdam The Netherlands

8. Center for Population Screening National Institute for Public Health and the Environment (RIVM) Bilthoven The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12571

Reference42 articles.

1. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

2. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

3. Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history

4. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

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