Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations

(2015) Jennifer Heeley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

(2015) Ahmet Okay Caglayan et al.   European Journal of Medical Genetics

Endo-β-N-acetylglucosaminidase formsN-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells

(2015) Chengcheng Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

(2014) Gregory M. Enns et al.   GENETICS IN MEDICINE

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied and treated

(2014) Matthew Might et al.   GENETICS IN MEDICINE

The cytoplasmic peptide:N-glycanase (Ngly1)--basic science encounters a human genetic disorder

(2014) T. Suzuki   JOURNAL OF BIOCHEMISTRY

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

(2013) Katrin Koehler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diseases of glycosylation beyond classical congenital disorders of glycosylation

(2012) Thierry Hennet   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG

(2012) Gert Matthijs et al.   GLYCOCONJUGATE JOURNAL

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

(2011) Samira Achouitar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines

(2008) Isaac Marín-Valencia et al.   CLINICAL BIOCHEMISTRY