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In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease	Ramsubir S,
Farber disease in a newborn	Sana C,
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family	Devi AR,
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case	Nowaczyk MJ,
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1	Zeevaert R
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II	Foulquier F
Congenital glutamine deficiency with glutamine synthetase mutations	Kölker S
Golgi function and dysfunction in the first COG4-deficient CDG type II patient	Reynders E
COG8 deficiency causes new congenital disorder of glycosylation type IIh	Kranz C
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation	Foulquier F
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter	Martinez-Duncker I
Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome?	Willig TB
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia	Morava E
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder	Wu X
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation	Etzioni A
Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc)	Sturla L
Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc	Ishikawa HO
Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc	Yakubenia S
Dissociation profile of protonated fucosyl glycopeptides and quantitation of fucosylation levels of glycoproteins by mass spectrometry	Tajiri M
The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb)	Hong Y
Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa	Wang Y
A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis	Faid V
MGAT2 deficiency (CDG-IIa): The Life of J	de Cock P
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient	Vleugels W
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature	Di Rocco M
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality	Kranz C
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If	Schenk B
Congenital disorder of glycosylation (CDG) type Ie. A new patient	García-Silva MT
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings	Dancourt J
CDG-Id in two siblings with partially different phenotypes	Kranz C
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient	Rimella-Le-Huu A
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient	Sun L
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation	Eklund EA
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology	Eklund EA
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih	Stölting T
A new case of ALG8 deficiency (CDG Ih)	Vesela K
Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms	Babovic-Vuksanovic D
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.	Quintana E
Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib	Liem YS
Development of liver disease despite mannose treatment in two patients with CDG-Ib	Mention K
Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose	Tamminga RY
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib	de Lonlay P
RFT1 deficiency in three novel CDG patients	Vleugels W
Human RFT1 deficiency leads to a disorder of N-linked glycosylation	Haeuptle MA
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects	Leroy JG
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies	Lefeber DJ
Hypoglycosylation due to dolichol metabolism defects	Denecke J
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy	Kranz C
Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy	Hardré R
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts	Higashidani A
Congenital disorders of glycosylation type Ia as a cause of mirror syndrome	Wurm D