Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

JIMD Reports - Germany
doi 10.1007/8904_2011_57
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Berlin Heidelberg

Related search

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

Nutrients
NutritionFood ScienceDietetics
2017English

Anesthetic Management of a Boy With Congenital Disorder of Glycosylation (CDG) I-X

International Journal of Clinical Medicine
2011English

Congenital Disorder of Glycosylation Type Ia (CDG-Ia): Phenotypic Spectrum of the R141h/F119l Genotype

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
2001English

Adult Phenotype and Further Phenotypic Variability in SRD5A3-CDG

BMC Medical Genetics
Genetics
2014English

Initial Diagnosis of the Congenital Disorder of Glycosylation PMM2-CDG (CDG1a) in a 4-Year-Old Girl After Neurosurgical Intervention for Cerebral Hemorrhage

Journal of Neurosurgery: Pediatrics
Child HealthPerinatologyNeurologyMedicinePediatricsSurgery
2014English

Alg3-CDG

2020English

Alg1-CDG

2020English

Cad-CDG

2020English

Clinical and Molecular Features of Three Patients With Congenital Disorders of Glycosylation Type Ih (CDG-Ih) (ALG8 Deficiency)

Journal of Medical Genetics
Genetics
2004English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy