Literature DB >> 22386715

Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

Miski Mohamed1, Miranda Theodore, Hedi Claahsen-van der Grinten, Antonius E van Herwaarden, Karin Huijben, Lotte van Dongen, Dorus Kouwenberg, Dirk J Lefeber, Ron A Wevers, Eva Morava.   

Abstract

Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation. We evaluated the reliability of biochemical markers and investigated thyroid function in 18 PMM2-CDG patients. We propose an expectative therapeutic approach for neonates with thyroid abnormalities in CDG. Copyright Â
© 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 22386715     DOI： 10.1016/j.ymgme.2012.02.001

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


  8 in total

Review 1.  Congenital disorders of glycosylation.

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

2.  Three families with mild PMM2-CDG and normal cognitive development.

Authors:  Mari-Anne Vals; Eva Morava; Kai Teeäär; Riina Zordania; Sander Pajusalu; Dirk J Lefeber; Katrin Õunap
Journal:  Am J Med Genet A       Date:  2017-04-19       Impact factor: 2.802

Review 3.  Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

Authors:  Yoon-Myung Kim; Go Hun Seo; Euiseok Jung; Ja-Hyun Jang; Sook Za Kim; Beom Hee Lee
Journal:  J Hum Genet       Date:  2017-12-13       Impact factor: 3.172

4.  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

5.  A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.

Authors:  Barden Chan; Michelle Clasquin; Gromoslaw A Smolen; Gavin Histen; Josh Powe; Yue Chen; Zhizhong Lin; Chenming Lu; Yan Liu; Yong Cang; Zhonghua Yan; Yuanfeng Xia; Ryan Thompson; Chris Singleton; Marion Dorsch; Lee Silverman; Shin-San Michael Su; Hudson H Freeze; Shengfang Jin
Journal:  Hum Mol Genet       Date:  2016-04-05       Impact factor: 6.150

Review 6.  CDG Therapies: From Bench to Bedside.

Authors:  Sandra Brasil; Carlota Pascoal; Rita Francisco; Dorinda Marques-da-Silva; Giuseppina Andreotti; Paula A Videira; Eva Morava; Jaak Jaeken; Vanessa Dos Reis Ferreira
Journal:  Int J Mol Sci       Date:  2018-04-27       Impact factor: 5.923

7.  Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

Authors:  Doğuş Vurallı; Yılmaz Yıldız; Alev Ozon; Ali Dursun; Nazlı Gönç; Ayşegül Tokatlı; H Serap Sivri; Ayfer Alikaşifoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2022-03-21

Review 8.  Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.

Authors:  Monique Van Scherpenzeel; Esther Willems; Dirk J Lefeber
Journal:  Glycoconj J       Date:  2016-01-07       Impact factor: 2.916
  8 in total

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