New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system (Q34181480)

31 July 2017

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title

New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system (English)

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31 July 2017

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Hudson H Freeze

2

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author name string

Bradley S Miller

series ordinal

1

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31 July 2017

publication date

1 March 2003

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Reviews in Endocrine and Metabolic Disorders

31 July 2017

published in

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31 July 2017

volume

4

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31 July 2017

issue

1

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31 July 2017

page(s)

103-113

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The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system.

31 July 2017

cites work

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12 December 2020

Correction of leukocyte adhesion deficiency type II with oral fucose

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12 December 2020

Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein

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12 December 2020

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

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12 December 2020

Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

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12 December 2020

Biological roles of oligosaccharides: all of the theories are correct

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12 December 2020

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

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12 December 2020

Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors

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12 December 2020

Congenital disorders of glycosylation and the pediatric liver.

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12 December 2020

Congenital disorders of glycosylation: the rapidly growing tip of the iceberg

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12 December 2020

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

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12 December 2020

Update and perspectives on congenital disorders of glycosylation

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12 December 2020

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

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12 December 2020

Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant

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12 December 2020

Disialotransferrin developmental deficiency syndrome

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12 December 2020

Analysis of carbohydrate residues on recombinant human thyrotropin receptor

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12 December 2020

Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

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12 December 2020

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation

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12 December 2020

Prevalence and natural history of cryptorchidism

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12 December 2020

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

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12 December 2020

Biological importance of glycosylation

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

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12 December 2020

The six N-linked carbohydrates of the lutropin/choriogonadotropin receptor are not absolutely required for correct folding, cell surface expression, hormone binding, or signal transduction

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12 December 2020

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

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12 December 2020

A role for glycosylation of the alpha subunit in transduction of biological signal in glycoprotein hormones

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12 December 2020

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

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12 December 2020

Glycosylation variants of murine interleukin-4: evidence for different functional properties

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12 December 2020

Syndrome d'hypoglycosylation des glycoprotéines sériques

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12 December 2020

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

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12 December 2020

A new variant of the carbohydrate deficient glycoproteins syndrome

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12 December 2020

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

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12 December 2020

N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs

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12 December 2020

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

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12 December 2020

Suppression of tumor growth and metastasis in Mgat5-deficient mice

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12 December 2020

Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry

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12 December 2020

Glycosylation of human corticosteroid-binding globulin at aspargine 238 is necessary for steroid binding

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12 December 2020

Novel aspects of the insulin-like growth factor binding proteins

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

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12 December 2020

Properties of glycosylated and non-glycosylated human recombinant IGF binding protein-3 (IGFBP-3).

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12 December 2020

Congenital disorders involving defective N-glycosylation of proteins

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12 December 2020

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

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12 December 2020

Roles for glycosylation of cell surface receptors involved in cellular immune recognition

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12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation

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12 December 2020

Ultrasensitive profiling and sequencing of N-linked oligosaccharides using standard DNA-sequencing equipment.

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12 December 2020

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

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12 December 2020

Disorders of thyrotropin synthesis, secretion, and function

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12 December 2020

Congenital nephrosis in association with hypothyroidism and hypoadrenocorticism

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12 December 2020

Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

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12 December 2020

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

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12 December 2020

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome: beyond the screen

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12 December 2020

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

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12 December 2020

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Insulin-like growth factors I and II in healthy man. Estimations of half-lives and production rates

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12 December 2020

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

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12 December 2020

Post-translational processing of the natural human thyrotropin receptor: demonstration of more than two cleavage sites

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

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12 December 2020

Identification of the sites of N-linked glycosylation on the follicle-stimulating hormone (FSH) receptor and assessment of their role in FSH receptor function

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12 December 2020

The role of the oligosaccharide chains of thyrotropin alpha- and beta-subunits in hormone action

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12 December 2020

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

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12 December 2020

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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12 December 2020

Minireview: tissue-specific versus generalized gene targeting of the igf1 and igf1r genes and their roles in insulin-like growth factor physiology

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12 December 2020

Gonadal function and glycoprotein hormones in the carbohydrate‐deficient glycoprotein (CDG) syndrome

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12 December 2020

Characterisation of recombinant glycosylation variants of insulin-like growth factor binding protein-3

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12 December 2020

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome in a girl with hypogonadism due to inactive follicle stimulating hormone

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12 December 2020

Setting the standards: quality control in the secretory pathway

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12 December 2020

The carbohydrate-deficient glycoprotein syndromes: an overview

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12 December 2020

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

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12 December 2020

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

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12 December 2020

Inherited disorders of glycoprotein synthesis: cell biological insights

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12 December 2020

Carbohydrate deficient transferrin in abstaining patients with end-stage liver disease

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12 December 2020

Endocrine regulation of gonadotropin glycosylation.

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12 December 2020

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

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12 December 2020

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

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12 December 2020

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

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12 December 2020

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

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12 December 2020

Structure and function of corticosteroid-binding globulin: role of carbohydrates

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12 December 2020

Balancing N-linked glycosylation to avoid disease

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12 December 2020

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

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12 December 2020

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter

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12 December 2020

Online single-step analysis of blood proteins: the transferrin story

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12 December 2020

Why mammalian cell surface proteins are glycoproteins

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12 December 2020

Transferrin isoform distribution: gender and alcohol consumption.

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12 December 2020

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

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12 December 2020

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)

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12 December 2020

Carbohydrate-deficient transferrin in galactosaemia

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12 December 2020

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

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12 December 2020

Phosphomannomutase deficiency and normal pubertal development

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12 December 2020

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

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12 December 2020

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

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12 December 2020

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

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12 December 2020

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

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12 December 2020

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

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12 December 2020

Hypergonadotropic hypogonadism in female patients with galactosemia

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12 December 2020

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

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12 December 2020

Endocrinology of the Carbohydrate-Deficient Glycoprotein Syndrome Type 1 from Birth through Adolescence

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12 December 2020

Circulating levels and molecular distribution of the acid-labile (alpha) subunit of the high molecular weight insulin-like growth factor-binding protein complex

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome.

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12 December 2020

Evolutionary considerations in relating oligosaccharide diversity to biological function

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12 December 2020

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

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12 December 2020

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Identifiers

DOI

10.1023/A:1021883605280

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Dimensions Publication ID

31 July 2017

1046281676

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