Carbohydrate-deficient glycoprotein syndromes: The Italian experience

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 391-395

  Di Rocco, M ^a   Barone, R ^b   Adami, A ^c   Burlina, A ^d   Carrozzi, M ^e   Dionisi Vici, C ^f   Gatti, R ^a   Iannetti, P ^g   Parini, R ^h   Raucci, U ^g   Roccella, M ^h   Spada, M ^h   Fiumara, A ^b  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c SAN CARLO BORROMEO HOSPITAL   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF TRIESTE   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h Giannina Gaslini Institute ^*

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE PHOSPHATE ISOMERASE; PHOSPHOMANNOMUTASE; TRANSFERRIN;

ADOLESCENT; ADULT; CHILD; CHROMOSOME 16P; CLINICAL ARTICLE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GLYCOSYLATION; HUMAN; ISOELECTRIC FOCUSING; ITALY; MALE; TRANSFERRIN BLOOD LEVEL;

ADOLESCENT; ADULT; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; HUMANS; ITALY; LEUKOCYTES; MALE; MUTAGENESIS; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TRANSFERRIN;

EID: 0034041462     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005608019977     Document Type: Conference Paper

References (4)

1. Jaeken J, Stibler H, Hagberg B (1991) The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystem disease with severe nervous system involvement. Acta Paediatr Scand (Suppl) 375: 1-71.
2. Jaeken J, Artigas J, Barone R, et al (1997) Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis 20: 447-449.
3. Jaeken J, Matthijs G, Saudubray JM, et al (1998) Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 62: 1535-1539.
4. Matthijs G, Schollen E, Pardon E, et al (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) Nature Genetics 16: 88-92.