标题
What is new in CDG?
作者
关键词
-
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 40, Issue 4, Pages 569-586
出版商
Springer Nature
发表日期
2017-05-08
DOI
10.1007/s10545-017-0050-6
参考文献
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。- Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population
- (2017) Jong-Keuk Lee et al. OPHTHALMIC GENETICS
- Human glycosylation disorders
- (2017) Donna Krasnewich Cancer Biomarkers
- Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
- (2016) Binu Porath et al. AMERICAN JOURNAL OF HUMAN GENETICS
- TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
- (2016) Jos C. Jansen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
- (2016) Jos C. Jansen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
- (2016) Periklis Makrythanasis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Desbuquois dysplasia type II in a patient with a homozygous mutation inXYLT1and new unusual findings
- (2016) Cynthia Silveira et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel mutation inPIGWcauses glycosylphosphatidylinositol deficiency without hyperphosphatasia
- (2016) Max Hogrebe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genetic defects in the hexosamine and sialic acid biosynthesis pathway
- (2016) Anke P. Willems et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
- (2016) Matthias Kettwig et al. BMC Neurology
- CADmutations and uridine-responsive epileptic encephalopathy
- (2016) Johannes Koch et al. BRAIN
- A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
- (2016) Emilia Servián‐Morilla et al. EMBO Molecular Medicine
- Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation
- (2016) Yoshinao Wada GLYCOCONJUGATE JOURNAL
- Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation
- (2016) Monique Van Scherpenzeel et al. GLYCOCONJUGATE JOURNAL
- Mutations inTRAPPC11are associated with a congenital disorder of glycosylation
- (2016) Leslie Matalonga et al. HUMAN MUTATION
- Rare Noncoding Mutations Extend the Mutational Spectrum in thePGAP3Subtype of Hyperphosphatasia with Mental Retardation Syndrome
- (2016) Alexej Knaus et al. HUMAN MUTATION
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- (2016) Aideen M. McInerney-Leo et al. HUMAN MUTATION
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- (2016) Hiroshi Manya et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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- (2016) Fulya Taylan et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
- (2016) Long Guo et al. JOURNAL OF HUMAN GENETICS
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- (2016) Eva Morava et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2016) Maria Monticelli et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2016) Simon Edvardson et al. JOURNAL OF MEDICAL GENETICS
- A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
- (2016) Katrin Koehler et al. JOURNAL OF MEDICAL GENETICS
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- (2016) M. E. de la Morena-Barrio et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- NANS-mediated synthesis of sialic acid is required for brain and skeletal development
- (2016) Clara D M van Karnebeek et al. NATURE GENETICS
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- (2016) S. Sabry et al. Orphanet Journal of Rare Diseases
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- (2016) Eric J. R. Jansen et al. Nature Communications
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- (2016) Isabelle Gerin et al. Nature Communications
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- (2016) Motoi Kanagawa et al. Cell Reports
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- (2016) Jeremy L Praissman et al. eLife
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- (2015) Julien H. Park et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2015) Kym M. Boycott et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2015) Christine Fauth et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Neurological Aspects of Human Glycosylation Disorders
- (2015) Hudson H. Freeze et al. Annual Review of Neuroscience
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- (2015) Moniek Riemersma et al. CHEMISTRY & BIOLOGY
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- (2015) W. Zhang et al. CLINICAL CHEMISTRY
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- (2015) Karin E. Lundin et al. CLINICAL IMMUNOLOGY
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- (2015) Emma Tham et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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- (2015) B. G. Ng et al. HUMAN MOLECULAR GENETICS
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- (2015) Sali M K Farhan et al. JOURNAL OF MEDICAL GENETICS
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- (2015) Maja Tarailo-Graovac et al. Orphanet Journal of Rare Diseases
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- (2015) Thierry Hennet et al. TRENDS IN BIOCHEMICAL SCIENCES
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- (2015) Leslie K. Climer et al. Frontiers in Neuroscience
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- (2014) Asbjørg Stray-Pedersen et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2014) Hudson H. Freeze et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2014) F. Buket Basmanav et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2014) Eon Joo Park et al. Cell Metabolism
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- (2014) Yu Zhang et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
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- (2014) Atfa Sassi et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
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- (2014) D. Rymen et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2014) Anna Buczkowska et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Congenital disorders of glycosylation: new defects and still counting
- (2014) Kyle Scott et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
- (2014) Eva Morava MOLECULAR GENETICS AND METABOLISM
- Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement
- (2014) Rita Barone et al. SEMINARS IN NEUROLOGY
- Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
- (2013) Bobby G. Ng et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
- (2013) Nina Bögershausen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex
- (2013) M. E. Losfeld et al. HUMAN MOLECULAR GENETICS
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- (2013) Laurence Duplomb et al. HUMAN MOLECULAR GENETICS
- De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy
- (2013) Hirofumi Kodera et al. HUMAN MUTATION
- Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome
- (2013) Tomohiro Chiyonobu et al. JOURNAL OF MEDICAL GENETICS
- Wrinkled Skin and Fat Pads in Patients with ALG8-CDG: Revisiting Skin Manifestations in Congenital Disorders of Glycosylation
- (2013) Dorus Kouwenberg et al. PEDIATRIC DERMATOLOGY
- Normal glycosylation screening does not rule out SRD5A3-CDG
- (2011) Miski Mohamed et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- CDG nomenclature: Time for a change!
- (2009) Jaak Jaeken et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
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