Journal of Inherited Metabolic Disease
Collection
Collection
- ISSN: 0141-8955
-
A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II Article
Journal of Inherited Metabolic Disease, 20(4), 556-558.M.A. Kroos (Marian), A.E. Waitfield (A.), M. Joosse (Marijke), B. Winchester, A.J.J. Reuser (Arnold) and K.D. MacDermot (K.)
September 1997 -
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin Article
Journal of Inherited Metabolic Disease, 20(4), 587-594.W.J. Kleijer (Wim), J.L.M. Keulemans (J. L M), M. van der Kraan (M.), M. Geilen (Mario), R.M. van der Helm (Robert), M.A. Rafi (M.), P. Luzi (P.), D.A. Wenger (D.), D.J.J. Halley (Dicky) and O.P. van Diggelen (Otto)
September 1997 -
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease) Article
Journal of Inherited Metabolic Disease, 20(6), 731-741.B. Fowler (B.), R.B.H. Schutgens (R. B H), D.S. Rosenblatt (D.), G.P. Smit and J. Lindemans (Jan)
December 1997
-
Fatal neonatal malonic aciduria Article
Journal of Inherited Metabolic Disease, 21(1), 76-77.B. Buyukgebiz (B.), C. Jakobs (Cornelis), H.R. Scholte (Hans), J.G.M. Huijmans (Jan) and W.J. Kleijer (Wim)
February 1998 -
Pyruvate dehydrogenase complex deficiency and absence of subunit X Article
Journal of Inherited Metabolic Disease, 21(1), 9-16.L. de Meirleir (Linda), J. Lissens (Jurgen), C. Benelli (C.), C. Marsac (C.), J.B.C. de Klerk (Johannes), J. Scholte (Jasper), O.P. van Diggelen (Otto), W.J. Kleijer (Wim), S. Seneca (S.) and I. Liebaers (Inge)
February 1998 -
L-2-hydroxyglutaric aciduria and lactic acidosis Conference Paper
P.G. Barth (Peter), R.J.A. Wanders (Ronald), H.R. Scholte (Hans), N.G.G.M. Abeling (Nicolaas), C. Jakobs (Cornelis), R.B.H. Schutgens (R. B H) and P. Vreken (P.)
August 1998 -
Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands Article
Journal of Inherited Metabolic Disease, 21(4), 416-422.B. Weber (Bernd), J.J.P. van de Kamp (Jacques), W.J. Kleijer (Wim), X.-H. Guo (X.), L.C. Blanch (Lianne), O.P. van Diggelen (Otto), R.A. Wevers (Ron), B.J. Poorthuis (Ben) and J.J. Hopwood (J.)
August 1998 -
Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathy Article
Journal of Inherited Metabolic Disease, 21(4), 437-438.R. Artan (R.), O.P. van Diggelen (Otto) and J.G.M. Huijmans (Jan)
August 1998