Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.
about
Hyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and ManagementThe Diagnosis and Management of Hyperinsulinaemic HypoglycaemiaGlycan reductive isotope labeling for quantitative glycomicsThe congenital disorders of glycosylation: a multifaceted group of syndromes.Hypoglycaemia related to inherited metabolic diseases in adultsA novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Recent advances in hyperinsulinemic hypoglycemia of infancy.Phenylboronic acid-functionalized magnetic nanoparticles for one-step saccharides enrichment and mass spectrometry analysisCongenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Pancreatic insulinoma combined with glucagon positive cell: A case report.The molecular mechanisms, diagnosis and management of congenital hyperinsulinismInsufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports.Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.Defective ALG3 causes ALG3-CDG (CDG-1d)Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Defective ALG3 does not add mannose to the N-glycan precursorALG3 transfers Man to N-glycan precursor (GlcNAc)2 (Man)5 (PP-Dol)1Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.Identification of the gene encoding the alpha1,3-mannosyltransferase (ALG3) in Arabidopsis and characterization of downstream n-glycan processing.
P2860
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P2860
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@ast
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@en
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@nl
type
label
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@ast
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@en
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@nl
prefLabel
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@ast
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@en
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@nl
P2093
P921
P356
P1476
Congenital disorder of glycosy ...... ia and islet cell hyperplasia.
@en
P2093
Erik A Eklund
Jason Cohen
Liangwu Sun
Wendy K Chung
P304
P356
10.1210/JC.2005-0250
P407
P577
2005-04-19T00:00:00Z