Journal of Inherited Metabolic Disease
Collection
Collection
- ISSN: 0141-8955
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The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria Article
Journal of Inherited Metabolic Disease, 28(6), 845-854.M. Hoeksma, M.E. van Rijn (Margreet), P.H. Verkerk (Paul), A.M. Bosch (Annet), M.F. Mulder (Margot), J.B.C. de Klerk (Johannes), T.J. de Koning (Tom), M.E. Rubio-Gozalbo (Estela), M. de Vries (Maaike), P.J.J. Sauer (Pieter), et al. F.J. van Spronsen
December 2005 -
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation Article
Journal of Inherited Metabolic Disease, 28(6), 1136-1138.H.G.M. Oude Luttikhuis (H. G M), G. Touati (G.), D. Rabier (D.), M. Williams (Martine), C. Jakobs (Cornelis) and J.M. Saudubray (J.)
December 2005 -
Seven cases of Pompe disease from Greece Article
Journal of Inherited Metabolic Disease, 29(4), 556-563.M.A. Kroos (Marian), P. Manta (P.), I. Mavridou (I.), F. Muntoni, D.J.J. Halley (Dicky), R.M. van der Helm (Robert), D. Zaifeiriou (D.), A.T. van der Ploeg (Ans), A.J.J. Reuser (Arnold) and H. Michelakakis (Helen)
August 2006 -
Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I Article
Journal of Inherited Metabolic Disease, 30(5), 750-757.O.I.I. Soliman (Osama Ibrahim Ibrahim), R.G.M. Timmermans (Remco), A. Nemes (Attila), W.B. Vletter (Wim), J.H.P. Wilson (Paul), F.J. ten Cate (Folkert) and M.L. Geleijnse (Marcel)
October 2007
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Vitamin D deficiency in patients with erythropoietic protoporphyria Article
Journal of Inherited Metabolic Disease, 1-4.J.M.C. Spelt, F.W.M. de Rooij (Felix), J.H.P. Wilson (Paul) and A.A.M. Zandbergen (Adrienne)
January 2008 -
Sanfilippo syndrome: A mini-review Review
M.J. Valstar (Marlies), G.J.G. Ruijter (George), O.P. van Diggelen (Otto), B.J. Poorthuis (Ben) and F.A. Wijburg (Frits)
January 2008 -
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres Article
Journal of Inherited Metabolic Disease, 31(3), 361-367.T. Zwickler, M. Lindner (Martin), H.I. Aydin (Halil Ibrahim), M.R. Baumgartner (Matthias), O.A. Bodamer (Olaf), A.B. Burlina (Alberto), A. Das, H. de Klerk, G. Gökcay (Gülbin), S. Grünewald (Sonja), et al. N. Guffon (Nathalie), E.M. Maier, E. Morava (Eva), S. Geb, B. Schwahn (Bernd), J.H. Walter (John), U. Wendel (Udo), F.A. Wijburg (Frits), E. Müller, S. Kölker (Stefan) and F. Hörster (Friederike)
June 2008 -
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU Article
Journal of Inherited Metabolic Disease, 32(1), 27-31.F.J. van Spronsen, M.E. van Rijn (Margreet), B. Dorgelo, M. Hoeksma, A.M. Bosch (Annet), M.F. Mulder (Margot), J.B.C. de Klerk (Johannes), T.J. de Koning (Tom), M.E. Rubio-Gozalbo (Estela), M. de Vries (Maaike), et al. P.H. Verkerk (Paul)
January 2009