Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)-Reference-Cited by-同舟云学术

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Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)

Published:2009-03 Issue:4-5 Volume:42 Page:408-415
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Quintana Ester,Navarro-Sastre Aleix,Hernández-Pérez José María,García-Villoria Judit,Montero Raquel,Artuch Rafael,Ribes Antonia,Briones Paz

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference23 articles.

1. Congenital disorders of glycosylation: a rapidly expanding disease family;Jaeken;Annu. Rev. Genomics Hum. Genet.,2007

2. On the nomenclature of congenital disorders of glycosylation (CDG);Jaeken;J Inherit Metab Dis,2008

3. Screening and diagnosis of congenital disorders of glycosylation;Marklova;Clin. Chim. Acta,2007

4. Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders;Grünewald;Early Hum. Dev.,2007

5. Congenital disorders of glycosylation (CDG): update and developments;Jaeken;J. Inherit. Metab. Dis.,2004

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1. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing;Molecular Genetics and Metabolism;2024-07

2. Brain function in classic galactosemia, a galactosemia network (GalNet) members review;Frontiers in Genetics;2024-02-15

3. Loss of hepatic manganese transporter ZIP8 disrupts serum transferrin glycosylation and the glutamate-glutamine cycle;Journal of Trace Elements in Medicine and Biology;2023-07

4. Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series;Therapeutic Advances in Rare Disease;2023-01

5. Congenital Disorders of Glycosylation: What Clinicians Need to Know?;Frontiers in Pediatrics;2021-09-03

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