4.4 Article Proceedings Paper

Congenital disorders of glycosylation: new defects and still counting

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Medicine, General & Internal

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

L. C. Tegtmeyer et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Genetics & Heredity

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Bobby G. Ng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Peter M. Krawitz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

Perinatal and early infantile symptoms in congenital disorders of glycosylation

Simone Funke et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Clinical Neurology

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Judith Cossins et al.

Article Biochemistry & Molecular Biology

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

Shiteshu Shrimal et al.

HUMAN MOLECULAR GENETICS (2013)

Review Biochemistry & Molecular Biology

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

Hudson H. Freeze

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Article Endocrinology & Metabolism

Thrombotic complications in patients with PMM2-CDG

M. Linssen et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Article Genetics & Heredity

MAN1B1 Deficiency: An Unexpected CDG-II

Daisy Rymen et al.

PLOS GENETICS (2013)

Article Genetics & Heredity

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

Katsiaryna Belaya et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

Francois Foulquier et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Clinical Neurology

The Ever-Expanding Spectrum of Congenital Muscular Dystrophies

Eugenio Mercuri et al.

ANNALS OF NEUROLOGY (2012)

Article Clinical Neurology

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Rita Barone et al.

ANNALS OF NEUROLOGY (2012)

Article Biochemistry & Molecular Biology

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal et al.

HUMAN MOLECULAR GENETICS (2012)

Article Genetics & Heredity

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Muhammad Arshad Rafiq et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Pathology

A Novel Type of Macrothrombocytopenia Associated with a Defect in α2,3-Sialylation

Claire Jones et al.

AMERICAN JOURNAL OF PATHOLOGY (2011)

Article Biochemistry & Molecular Biology

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

M. Mohamed et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2011)

Article Medical Laboratory Technology

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

Mailys Guillard et al.

CLINICAL CHEMISTRY (2011)

Review Pediatrics

Congenital disorders of glycosylation: sweet news

Miranda Theodore et al.

CURRENT OPINION IN PEDIATRICS (2011)

Letter Biochemistry & Molecular Biology

Normal glycosylation screening does not rule out SRD5A3-CDG

Miski Mohamed et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Article Endocrinology & Metabolism

Metabolic cutis laxa syndromes

Miski Mohamed et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

Editorial Material Endocrinology & Metabolism

How to find and diagnose a CDG due to defective N-glycosylation

Dirk J. Lefeber et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

Article Genetics & Heredity

Congenital disorders of glycosylation

Jaak Jaeken

YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)

Review Biochemistry & Molecular Biology

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

P. de Lonlay et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)

Editorial Material Biochemistry & Molecular Biology

CDG nomenclature: Time for a change!

Jaak Jaeken et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)

Article Biochemistry & Molecular Biology

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Renate Zeevaert et al.

HUMAN MOLECULAR GENETICS (2009)

Article Biochemistry & Molecular Biology

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Vishwanathan Hucthagowder et al.

HUMAN MOLECULAR GENETICS (2009)

Article Endocrinology & Metabolism

RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation

J. Jaeken et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)