Journal of Inherited Metabolic Disease
Collection
Collection
- ISSN: 0141-8955
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β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother Article
Journal of Inherited Metabolic Disease, 13(6), 867-872.W.J. Kleijer (Wim), P. Hu (P.), R. Thoomes (R.), M.A. Boer (Marijke), J.G.M. Huijmans (Jan), W.A.M. Blom (Wim), O.P. van Diggelen (Otto), E. Seemanova (E.) and M. Macek (Milan MI)
November 1990
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Neonatal cardiomyopathy and lactic acidosis responsive to thiamine Article
Journal of Inherited Metabolic Disease, 14(1), 75-79.H.D. Bakker (Henk), H.R. Scholte (Hans), I.E.M. Luyt-Houwen (I. E M), A.H. van Gennip (A.), N.G.G.M. Abeling (Nicolaas) and J. Lam
January 1991
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Article
Journal of Inherited Metabolic Disease, 14(5), 674-680.H. Przyrembel (H.), C. Jakobs (Cornelis), L. Ijlst (L.), J.B.C. de Klerk (Johannes) and R.J.A. Wanders (Ronald)
September 1991
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Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: Accurate postnatal diagnosis and the potential for prenatal diagnosis of canavan disease Article
Journal of Inherited Metabolic Disease, 14(5), 653-660.C. Jakobs (Cornelis), H.J. ten Brink (H.), M.F.M. Langelaar (Merel), T. Zee (Tom), F. Stellaard (Frans), M. Macek (Milan MI), K. Sršňová (K.), S. Sršeň (S.) and W.J. Kleijer (Wim)
September 1991
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Mitochondrial DNA deletion in an 8-year-old boy with pearson syndrome Article
Journal of Inherited Metabolic Disease, 15(3), 327-330.K.E. Bärlocher, A. Feldges, R. Weissert (Robert) and A. Rötig
May 1992
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Assessment of deficiencies of fatty Acyl-CoA dehydrogenases in fibroblasts, muscle and liver Article
Journal of Inherited Metabolic Disease, 15(3), 347-352.H.R. Scholte (Hans), J.D. Ross (John), W.A.M. Blom (Wim), A.M.C. Boonmani (A. M C), O.P. van Diggelen (Otto), C.L. Hall (C.), J.G.M. Huijmans (Jan), I.E.M. Luyt-Houwen (I. E M), W.J. Kleijer (Wim), J.B.C. de Klerk (Johannes), et al. H. Przyrembel (H.), M.H.M. Verduin (M. H M) and J.C.M. Verstegen (J. C M)
May 1992 -
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis Article
Journal of Inherited Metabolic Disease, 15(3), 331-334.H.R. Scholte (Hans), H.F.M. Busch (Herman) and I.E.M. Luyt-Houwen (I. E M)
May 1992 -
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C) Article
Journal of Inherited Metabolic Disease, 16(2), 465-472.Y.V. Voznyi, E.A. Karpova (E.), T.V. Dudukina (T.), I.V. Tsvetkova (I.), A.M. Boer, H.C. Janse (H.) and O.P. van Diggelen (Otto)
March 1993