9525984 |
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
Schiebe-Sukumar, M,
Zimmer, KP,
Körner, C,
Niehues, R,
Hasilik, M,
von Figura, K,
Wu, R,
Koch, HG,
Harms, E,
Reiter, K,
Harms, HK,
Freeze, HH,
Marquardt, T,
Alton, G
|
J. Clin. Invest. |
1998 |
9585601 |
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
Henri, H,
Dionisi-Vici, C,
Schollen, E,
Van Schaftingen, E,
Saudubray, JM,
Matthijs, G,
Bertini, E,
de Lonlay, P,
Jaeken, J,
Carchon, H
|
Am. J. Hum. Genet. |
1998 |
12756558 |
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
Denecke, J,
Marquardt, T
|
Eur. J. Pediatr. |
2003 |
3080572 |
Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome
Brochu, P,
Pelletier, VA,
Morin, CL,
Galéano, N,
Roy, CC,
Weber, AM
|
J. Pediatr. |
1986 |
12414827 |
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib
Seta, N,
Durand, G,
Vuillaumier-Barrot, S,
Barnier, A,
Saudubray, JM,
Le Bizec, C,
Prevost, C,
Pelletier, V,
de Lonlay, P,
Mitchell, G
|
J. Med. Genet. |
2002 |
10980531 |
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Freeze, H,
Huijmans, JG,
Schollen, E,
Patterson, M,
Pronicka, E,
Babovic-Vuksanovic, D,
Van Diggelen, OP,
Matthijs, G,
Adamowicz, M,
Dorland, L,
Marquardt, T,
Winchester, B,
Imtiaz, F,
de Koning, TJ
|
Hum Mutat |
2000 |