Literature DB >> 28762107

PMM2-CDG and sensorineural hearing loss.

Çiğdem Seher Kasapkara1, Zeren Barış2, Mustafa Kılıç3, Deniz Yüksel4, Lies Keldermans5, Gert Matthijs5, Jaak Jaeken6.   

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Year:  2017        PMID： 28762107     DOI： 10.1007/s10545-017-0073-z

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  25 in total

1.  Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome.

Authors:  M T García Silva; J de Castro; H Stibler; R Simón; A Chasco Yrigoyen; F Mateos; I Ferrer; S Madero; J M Velasco; F Guttierrez-Larraya
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Authors:  Rita Barone; M Carrozzi; R Parini; R Battini; D Martinelli; M Elia; M Spada; F Lilliu; G Ciana; A Burlina; V Leuzzi; M Leoni; L Sturiale; G Matthijs; J Jaeken; M Di Rocco; D Garozzo; A Fiumara
Journal:  J Neurol       Date:  2014-10-30       Impact factor: 4.849

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

Authors:  Gregory M Enns; Robert D Steiner; Neil Buist; Charles Cowan; Kathleen A Leppig; Marjorie F McCracken; Vibeke Westphal; Hudson H Freeze; John F O'brien; Jaak Jaeken; Gert Matthijs; Sarina Behera; Louanne Hudgins
Journal:  J Pediatr       Date:  2002-11       Impact factor: 4.406

4.  Disialotransferrin developmental deficiency syndrome.

Authors:  B Kristiansson; M Andersson; B Tonnby; B Hagberg
Journal:  Arch Dis Child       Date:  1989-01       Impact factor: 3.791

5.  A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Authors:  Celia Pérez-Cerdá; Ma Luisa Girós; Mercedes Serrano; M Jesús Ecay; Laura Gort; Belén Pérez Dueñas; Celia Medrano; Alfredo García-Alix; Rafael Artuch; Paz Briones; Belén Pérez
Journal:  J Pediatr       Date:  2017-01-27       Impact factor: 4.406

6.  RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

Authors:  Alec Aeby; Cynthia Prigogine; Catheline Vilain; Geneviève Malfilatre; Jaak Jaeken; Damien Lederer; Patrick Van Bogaert
Journal:  Epileptic Disord       Date:  2016-03       Impact factor: 1.819

7.  Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Authors:  Carmen Barba; Francesca Darra; Raffaella Cusmai; Elena Procopio; Carlo Dionisi Vici; Liesbeth Keldermans; Sandrine Vuillaumier-Barrot; Dirk J Lefeber; Renzo Guerrini
Journal:  Dev Med Child Neurol       Date:  2016-05-13       Impact factor: 5.449

8.  A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

Authors:  Nina Rind; Verena Schmeiser; Christian Thiel; Birgit Absmanner; Jürgen Lübbehusen; Julia Hocks; Neophytos Apeshiotis; Ekkehard Wilichowski; Ludwig Lehle; Christian Körner
Journal:  Hum Mol Genet       Date:  2010-01-15       Impact factor: 6.150

9.  Ophthalmic findings in an infant with phosphomannomutase deficiency.

Authors:  Wyatt B Messenger; Paul Yang; Mark E Pennesi
Journal:  Doc Ophthalmol       Date:  2014-02-04       Impact factor: 2.379

10.  ALG11-CDG: Three novel mutations and further characterization of the phenotype.

Authors:  L Regal; P M van Hasselt; F Foulquier; I Cuppen; Hcmt Prinsen; K Jansen; L Keldermans; L De Meirleir; G Matthijs; J Jaeken
Journal:  Mol Genet Metab Rep       Date:  2014-11-25
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  2 in total

Review 1.  Recognizable phenotypes in CDG.

Authors:  Carlos R Ferreira; Ruqaia Altassan; Dorinda Marques-Da-Silva; Rita Francisco; Jaak Jaeken; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2018-04-13       Impact factor: 4.982

2.  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
  2 in total

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