✦ LIBER ✦

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

✍ Scribed by P. Briones; M.A. Vilaseca; E. Schollen; I. Ferrer; M. Maties; C. Busquets; R. Artuch; L. Gort; M. Marco; E. van Schaftingen; G. Matthijs; J. Jaeken; A. Chabás

Book ID: 110425839
Publisher: Springer
Year: 2003
Tongue: English
Weight: 89 KB
Volume: 25
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1022825113506

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Stabilization of hypoglycosylation in a

Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia

✍ S. H. Hahn; S. J. Minnich; J. F. O’Brien 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 225 KB

Congenital disorder of glycosylation typ

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

✍ A. Rimella-Le-Huu; H. Henry; I. Kern; S. Hanquinet; E. Roulet-Perez; C. J. Newma 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 274 KB

Severe transient myocardial ischaemia ca

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

✍ Thorsten Marquardt; Georg Hülskamp; Josef Gehrmann; Volker Debus; Erik Harms; Ha 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 152 KB

Borderline mental development in a conge

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

✍ R. Barone; L. Sturiale; A. Fiumara; G. Uziel; D. Garozzo; J. Jaeken 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 108 KB

Primary skeletal dysplasia as a major ma

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

✍ D. Coman; D. Bostock; M. Hunter; P. Kannu; M. Irving; V. Mayne; M. Fietz; J. Jae 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 2 views

Genomic organization of the human phosph

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

✍ E. Schollen; L. Dorland; T.J. de Koning; O.P. Van Diggelen; J.G.M. Huijmans; T. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 2 views

Communicated by