Literature DB >> 21334936

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

Bradley S Miller1, Hudson H Freeze, Georg F Hoffmann, Kyriakie Sarafoglou.   

Abstract

Information on the hypothalamic pituitary ovarian axis in congenital disorders of glycosylation (CDG) females is scarce. Varying hormonal profiles and degrees of virilization in CDG females suggest a spectrum of yet unidentified mechanisms affected by impaired N-glycosylation. We describe an ALG6D woman who completed puberty with normal gonadotropins and testosterone levels, no virilization, and regular menses. Hormonal follow-up of CDG females is necessary to improve our understanding of the role of glycosylation in pubertal development.
Copyright © 2011 Elsevier Inc. All rights reserved.

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21334936      PMCID： PMC3869397          DOI： 10.1016/j.ymgme.2011.01.016

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  14 in total

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

Authors:  T Dupre; M Cuer; S Barrot; A Barnier; V Cormier-Daire; A Munnich; G Durand; N Seta
Journal:  Clin Chem       Date:  2001-01       Impact factor: 8.327

Review 2.  New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.

Authors:  Bradley S Miller; Hudson H Freeze
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

3.  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.

Authors:  D P Davis; T G Rozell; X Liu; D L Segaloff
Journal:  Mol Endocrinol       Date:  1997-05

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

Authors:  S Grünewald; T Imbach; K Huijben; M E Rubio-Gozalbo; A Verrips; J B de Klerk; H Stroink; J F de Rijk-van Andel; J L Van Hove; U Wendel; G Matthijs; T Hennet; J Jaeken; R A Wevers
Journal:  Ann Neurol       Date:  2000-06       Impact factor: 10.422

5.  Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

Authors:  Vibeke Westphal; Ming Xiao; Pui-Yan Kwok; Hudson H Freeze
Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

6.  Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence.

Authors:  F de Zegher; J Jaeken
Journal:  Pediatr Res       Date:  1995-04       Impact factor: 3.756

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

Authors:  H Stibler; G Blennow; B Kristiansson; H Lindehammer; B Hagberg
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-05       Impact factor: 10.154

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

Authors:  K Aittomäki; R Herva; U H Stenman; K Juntunen; P Ylöstalo; O Hovatta; A de la Chapelle
Journal:  J Clin Endocrinol Metab       Date:  1996-10       Impact factor: 5.958

9.  Structural and functional differences among purified recombinant mammalian aromatases: glycosylation, N-terminal sequence and kinetic analysis of human, bovine and the porcine placental and gonadal isozymes.

Authors:  C Jo Corbin; S M Mapes; Young M Lee; Alan J Conley
Journal:  Mol Cell Endocrinol       Date:  2003-08-29       Impact factor: 4.102

10.  IGF system in children with congenital disorders of glycosylation.

Authors:  Bradley S Miller; M Javad Khosravi; Marc C Patterson; Cheryl A Conover
Journal:  Clin Endocrinol (Oxf)       Date:  2009-01-22       Impact factor: 3.478
View more
  12 in total

1.  Neurology of inherited glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Lancet Neurol       Date:  2012-05       Impact factor: 44.182

2.  ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Authors:  M Dercksen; A C Crutchley; E M Honey; M M Lippert; G Matthijs; L J Mienie; H C Schuman; B C Vorster; J Jaeken
Journal:  JIMD Rep       Date:  2012-07-01

Review 3.  Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.

Authors:  Arianna Maiorana; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2017-06-27       Impact factor: 4.982

4.  Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Authors:  Hossein Moravej; Ruqaiah Altassan; Jaak Jaeken; Gregory M Enns; Carolyn Ellaway; Shanti Balasubramaniam; Pascale De Lonlay; David Coman; Saadet Mercimek-Andrews; Peter Witters; Eva Morava
Journal:  JIMD Rep       Date:  2019-11-25

5.  ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Authors:  Eva Morava; Vera Tiemes; Christian Thiel; Nathalie Seta; Pascale de Lonlay; Hans de Klerk; Margot Mulder; Estela Rubio-Gozalbo; Gepke Visser; Peter van Hasselt; Dafne D G Horovitz; Carolina Fischinger Moura de Souza; Ida V D Schwartz; Andrew Green; Mohammed Al-Owain; Graciella Uziel; Sabine Sigaudy; Brigitte Chabrol; Franc-Jan van Spronsen; Martin Steinert; Eleni Komini; Donald Wurm; Andrea Bevot; Addelkarim Ayadi; Karin Huijben; Marli Dercksen; Peter Witters; Jaak Jaeken; Gert Matthijs; Dirk J Lefeber; Ron A Wevers
Journal:  J Inherit Metab Dis       Date:  2016-06-10       Impact factor: 4.982

Review 6.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

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.  Disease variants in genomes of 44 centenarians.

Authors:  Yun Freudenberg-Hua; Jan Freudenberg; Vladimir Vacic; Avinash Abhyankar; Anne-Katrin Emde; Danny Ben-Avraham; Nir Barzilai; Dayna Oschwald; Erika Christen; Jeremy Koppel; Blaine Greenwald; Robert B Darnell; Soren Germer; Gil Atzmon; Peter Davies
Journal:  Mol Genet Genomic Med       Date:  2014-06-15       Impact factor: 2.183

9.  Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.

Authors:  Tiago Fernando Chaves; Luan Freitas Oliveira; Maristela Ocampos; Ingrid Tremel Barbato; Gisele Rozone de Luca; Jorge Humbeto Barbato Filho; Louise Lapagesse de Camargo Pinto; Pricila Bernardi; Angelica Francesca Maris
Journal:  BMC Med Genomics       Date:  2019-03-12       Impact factor: 3.063

10.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.