Literature DB >> 11148191

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

T Dupre1, M Cuer, S Barrot, A Barnier, V Cormier-Daire, A Munnich, G Durand, N Seta.   

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Year:  2001        PMID： 11148191

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  9 in total

Review 1.  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

2.  Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Authors:  M Casado; M M O'Callaghan; R Montero; C Pérez-Cerda; B Pérez; P Briones; E Quintana; J Muchart; A Aracil; M Pineda; R Artuch
Journal:  Cerebellum       Date:  2012-06       Impact factor: 3.847

3.  Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Authors:  Jaak Jaeken; Dirk Lefeber; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

4.  Improvement of CDG diagnosis by combined examination of several glycoproteins.

Authors:  J Fang; V Peters; B Assmann; C Körner; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

5.  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

6.  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

7.  Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.

Authors:  S Vermeer; H P H Kremer; Q H Leijten; H Scheffer; G Matthijs; R A Wevers; N A V M Knoers; E Morava; D J Lefeber
Journal:  J Neurol       Date:  2007-08-15       Impact factor: 4.849

Review 8.  Rescuing lethal phenotypes induced by disruption of genes in mice: a review of novel strategies.

Authors:  N Lipták; Z Gál; B Biró; L Hiripi; O I Hoffmann
Journal:  Physiol Res       Date:  2021-01-14       Impact factor: 1.881

9.  Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).

Authors:  Christina T Thiesler; Samanta Cajic; Dirk Hoffmann; Christian Thiel; Laura van Diepen; René Hennig; Malte Sgodda; Robert Weiβmann; Udo Reichl; Doris Steinemann; Ulf Diekmann; Nicolas M B Huber; Astrid Oberbeck; Tobias Cantz; Andreas W Kuss; Christian Körner; Axel Schambach; Erdmann Rapp; Falk F R Buettner
Journal:  Mol Cell Proteomics       Date:  2016-01-19       Impact factor: 5.911
  9 in total

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