Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis-Reference-Cited by-同舟云学术

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

Published:2020-12-28 Issue:3 Volume:44 Page:677-692
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Kožich Viktor¹^ORCID,Sokolová Jitka¹^ORCID,Morris Andrew A. M.²,Pavlíková Markéta³,Gleich Florian⁴,Kölker Stefan⁴,Krijt Jakub¹^ORCID,Dionisi‐Vici Carlo⁵,Baumgartner Matthias R.⁶⁷^ORCID,Blom Henk J.⁸^ORCID,Huemer Martina⁶⁹,Aldámiz‐Echevarría Luis,Arantes Rodrigo Rezende,Arrieta Francisco,Blasco‐Alonso Javier,Brouwers Martijn,Brunner‐Krainz Michaela,Bueno María,Peláez Rosa Burgos,Cano Aline,Couce María‐Luz,Crushell Ellen,Ficicioglu Can,Forny Patrick,García Jiménez María Concepción,Gaspar Ana,González‐Lamuño Leguina Domingo,Chapman Kimberly A.,Chien Yin‐Hsiu,Janssen Mirian C.H.,Ješina Pavel,Lachmann Robin,Lavigne Christian,Lund Allan M.,Lüsebrink Natalia,Maillot Francois,Martins Ana Maria,Olivas Silvia Meavilla,Mention Karine,Mochel Fanny,Monavari Ahmad,Moreira Sónia,Moreno Carolina Araujo,Muačević‐Katanec Diana,Mundy Helen,Murphy Elaine,Olivieri Giorgia,Paquay Stéphanie,Pedrón‐Giner Consuelo,Quintana Luís Peña,Porras‐Hurtado Gloria L.,Fraile Pilar Quijada,Redonnet‐Vernhet Isabelle,Rennings Alexander J.M.,Pons Mònica Ruiz,Santra Saikat,Servais Aude,Schiaffino Maria Cristina,Schiff Manuel,Schwahn Bernd C.,Schwartz Ida V.D.,Sremba Leighann J.,Stainforth Collette,Stepien Karolina M.,Sykut‐Cegielska Jolanta,Terry Allyson,Tran Christel,Miñana Isidro Vitoria,Vives‐Piñera Inmaculada,Williams Monique,Zeman Jiří,Zielonka Matthias,

Affiliation:

1. Department of Pediatrics and Inherited Metabolic Disorders Charles University‐First Faculty of Medicine and General University Hospital in Prague Prague Czech Republic

2. Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Trust Manchester UK

3. Department of Probability and Mathematical Statistics Charles University‐Faculty of Mathematics and Physics Prague Czech Republic

4. Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine University Hospital Heidelberg Germany

5. Division of Metabolism Bambino Gesù Children's Research Hospital, IRCCS Rome Italy

6. Division of Metabolism and Children's Research Center University Children's Hospital Zurich Switzerland

7. University of Zürich Zürich Switzerland

8. Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus Medical Center Rotterdam Netherlands

9. Department of Pediatrics Landeskrankenhaus Bregenz Bregenz Austria

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12338

Reference36 articles.

1. Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency

2. Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

3. The identification of homocystine in the urine

4. The successful treatment of homocystinuria with pyridoxine

5. Assignment of the gene for cystathionine ?-synthase to human chromosome 21 in somatic cell hybrids

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