Literature DB >> 12618564

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

Bradley S Miller1, Hudson H Freeze.   

Abstract

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Year:  2003        PMID： 12618564     DOI： 10.1023/a:1021883605280

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN： 1389-9155            Impact factor:   6.514


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  109 in total

Review 1.  The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system.

Authors:  Y R Boisclair; R P Rhoads; I Ueki; J Wang; G T Ooi
Journal:  J Endocrinol       Date:  2001-07       Impact factor: 4.286

Review 2.  Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors.

Authors:  S Kornfeld
Journal:  Annu Rev Biochem       Date:  1992       Impact factor: 23.643

3.  Correction of leukocyte adhesion deficiency type II with oral fucose.

Authors:  T Marquardt; K Lühn; G Srikrishna; H H Freeze; E Harms; D Vestweber
Journal:  Blood       Date:  1999-12-15       Impact factor: 22.113

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

Authors:  Jonne Helenius; Davis T W Ng; Cristina L Marolda; Peter Walter; Miguel A Valvano; Markus Aebi
Journal:  Nature       Date:  2002-01-24       Impact factor: 49.962

Review 5.  Congenital disorders of glycosylation and the pediatric liver.

Authors:  H H Freeze
Journal:  Semin Liver Dis       Date:  2001-11       Impact factor: 6.115

Review 6.  Congenital disorders of glycosylation: the rapidly growing tip of the iceberg.

Authors:  J Jaeken; H Carchon
Journal:  Curr Opin Neurol       Date:  2001-12       Impact factor: 5.710

Review 7.  Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

Authors:  B A Hagberg; G Blennow; B Kristiansson; H Stibler
Journal:  Pediatr Neurol       Date:  1993 Jul-Aug       Impact factor: 3.372

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

Authors:  B Schenk; T Imbach; C G Frank; C E Grubenmann; G V Raymond; H Hurvitz; I Korn-Lubetzki; S Revel-Vik; A Raas-Rotschild; A S Luder; J Jaeken; E G Berger; G Matthijs; T Hennet; M Aebi
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

9.  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.

Authors:  J Charlwood; P Clayton; G Keir; N Mian; E Young; B Winchester
Journal:  Prenat Diagn       Date:  1998-07       Impact factor: 3.050

Review 10.  Biological roles of oligosaccharides: all of the theories are correct.

Authors:  A Varki
Journal:  Glycobiology       Date:  1993-04       Impact factor: 4.313
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  12 in total

1.  Body composition in children with galactosaemia.

Authors:  B Panis; P Ph Forget; F H Nieman; M J P G van Kroonenburgh; M E Rubio-Gozalbo
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 2.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

3.  Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).

Authors:  Bradley S Miller; Hudson H Freeze; Georg F Hoffmann; Kyriakie Sarafoglou
Journal:  Mol Genet Metab       Date:  2011-02-03       Impact factor: 4.797

4.  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.

Authors:  B Shanti; M Silink; K Bhattacharya; N J Howard; K Carpenter; M Fietz; P Clayton; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  2009-04-27       Impact factor: 4.982

Review 5.  Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.

Authors:  Majid Alfadhel; Amir Babiker
Journal:  Sudan J Paediatr       Date:  2018

Review 6.  Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

Authors:  Jan Verheijen; Shawn Tahata; Tamas Kozicz; Peter Witters; Eva Morava
Journal:  Genet Med       Date:  2019-09-19       Impact factor: 8.822

Review 7.  Endocrine manifestations related to inherited metabolic diseases in adults.

Authors:  Marie-Christine Vantyghem; Dries Dobbelaere; Karine Mention; Jean-Louis Wemeau; Jean-Marie Saudubray; Claire Douillard
Journal:  Orphanet J Rare Dis       Date:  2012-01-28       Impact factor: 4.123

8.  Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.

Authors:  Hind Alsharhan; Bobby G Ng; Earnest James Paul Daniel; Jennifer Friedman; Eniko K Pivnick; Amal Al-Hashem; Eissa Ali Faqeih; Pengfei Liu; Nicole M Engelhardt; Kierstin N Keller; Jie Chen; Pamela A Mazzeo; Jill A Rosenfeld; Michael J Bamshad; Deborah A Nickerson; Kimiyo M Raymond; Hudson H Freeze; Miao He; Andrew C Edmondson; Christina Lam
Journal:  J Inherit Metab Dis       Date:  2021-03-01       Impact factor: 4.750

9.  rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency).

Authors:  Bradley S Miller; Meghann M Duffy; O Yaw Addo; Kyriakie Sarafoglou
Journal:  J Investig Med High Impact Case Rep       Date:  2013-09-05

10.  Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Authors:  Anna Čechová; Tomáš Honzík; Andrew C Edmondson; Can Ficicioglu; Mercedes Serrano; Rita Barone; Pascale De Lonlay; Manuel Schiff; Peter Witters; Christina Lam; Marc Patterson; Mirian C H Janssen; Joana Correia; Dulce Quelhas; Jolanta Sykut-Cegielska; Horacio Plotkin; Eva Morava; Kyriakie Sarafoglou
Journal:  Mol Genet Metab       Date:  2021-06-11       Impact factor: 4.204
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