Journal of Inherited Metabolic Disease
Collection
Collection
- ISSN: 0141-8955
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Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: Prenatal and postnatal diagnosis in five unrelated families Article
Journal of Inherited Metabolic Disease, 25(5), 399-410.W.J. Kleijer (Wim), V.H. Garritsen (Victor), M. Linnebank (Michael), P. Mooyer (P.), J.G.M. Huijmans (Jan), A. Mustonen, K.O.J. Simola (Kalle), M. Arslan-Kirchner (M.), R. Battini (R.), P. Briones (P.), et al. E. Cardo (E.), H. Mandel, E. Tschiedel (Eva), R.J.A. Wanders (Ronald) and H.G. Koch
September 2002 -
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA Article
Journal of Inherited Metabolic Disease, 27(1), 47-55.L. Jacobs (Lorraine), R.J.E. Jongbloed (Roselie), F.A. Wijburg (Frits), J.B.C. de Klerk (Johannes), J. Geraedts (Joep), J.G. Nijland (J.), H.R. Scholte (Hans), I.F.M. de Coo (René) and H.J.M. Smeets (Hubert)
April 2004 -
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings Article
Journal of Inherited Metabolic Disease, 27(5), 609-619.B. Giuffrè (B.), R. Parini, T. Rizzuti (T.), L. Morandi (L.), O.P. van Diggelen (Otto), C. Bruno (Claudio), M. Giuffrè (M.), G. Corsello (G.) and F. Mosca (F.)
October 2004 -
NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic Article
Journal of Inherited Metabolic Disease, 27(6), 725-733.D.A.M. Melis (Danielle), A.C. Havelaar (Adrie), E. Verbeek (Elly), G.P. Smit, A. Benedetti (A.), G.M.S. Mancini (Grazia) and F.W. Verheijen (Frans)
November 2004 -
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency Article
Journal of Inherited Metabolic Disease, 28(1), 95-98.K. Meer (K.), M.J. Roef (M.), J.B.C. de Klerk (Johannes), H.D. Bakker (Henk), G.P. Smit and B.T. Poll-The
January 2005 -
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate Article
Journal of Inherited Metabolic Disease, 28(5), 733-741.O.P. van Diggelen (Otto), Y.V. Voznyi, J.L.M. Keulemans (J. L M), K.G.C. Schoonderwoerd, J. Ledvinová, E. Mengel, M. Zschiesche (M.), R. Santer (Rene) and K. Harzer (K.)
January 2005 -
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency Article
Journal of Inherited Metabolic Disease, 28(5), 703-706.E. Morava (Eva), S.B. Wortmann (S.), H.Z. van Essen (H. Zweers), R.L. van Sambeek (R. Liebrand), R.A. Wevers (Ron) and O.P. van Diggelen (Otto)
January 2005 -
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study Article
Journal of Inherited Metabolic Disease, 28(6), 979-990.G.J.G. Ruijter (George), M.A. Boer (Marijke), C.W. Weykamp, R. de Vries (Rindert), I. van den Berg, J. Janssens-Puister (J.), K.E. Niezen-Koning, R.A. Wevers (Ron), B.J. Poorthuis (Ben) and O.P. van Diggelen (Otto)
December 2005