Issue 6/2007
Content (29 Articles)
No justification for very high-dose enzyme therapy for patients with type III Gaucher disease
Ari Zimran, Deborah Elstein
Epilepsy and inborn errors of metabolism in adults: A diagnostic approach
F. Sedel, I. Gourfinkel-An, O. Lyon-Caen, M. Baulac, J.-M. Saudubray, V. Navarro
Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach
F. Sedel, B. Fontaine, J. M. Saudubray, O. Lyon-Caen
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome
E. J. Hager, H. M. Tse, J. D. Piganelli, M. Gupta, M. Baetscher, T. E. Tse, A. S. Pappu, R. D. Steiner, G. F. Hoffmann, K. M. Gibson
Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker
P. Paesold-Burda, M. R. Baumgartner, R. Santer, N. U. Bosshard, B. Steinmann
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease
N. Flaschker, O. Feyen, S. Fend, E. Simon, P. Schadewaldt, U. Wendel
Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria
N. Longo, S. K. Li, G. Yan, R. P. Kochambilli, K. Papangkorn, D. Berglund, A.-H. Ghanem, C. L. Ashurst, S. L. Ernst, M. Pasquali, W. I. Higuchi
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia
N. C. den Hollander, D. J. Mulder, R. Graaff, S. R. Thorpe, J. W. Baynes, G. P. A. Smit, A. J. Smit
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)
A. R. Garcia, J. Pan, J. C. Lamsa, J. Muenzer
Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases
E. H. Davies, A. Erikson, T. Collin-Histed, E. Mengel, A. Tylki-Szymanska, A. Vellodi
Depression in adults with Fabry disease: A common and under-diagnosed problem
A. L. Cole, P. J. Lee, D. A. Hughes, P. B. Deegan, S. Waldek, R. H. Lachmann
Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis
M. L. Katz, D. N. Sanders, B. P. Mooney, Gary S. Johnson
Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic
I. Blahakova, E. Makaturova, L. Kotrbova, M. Soukupova, J. Lastuvkova, L. Kozak
Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia
E. Meriño-Ibarra, J. Puzo, E. Jarauta, A. Cenarro, D. Recalde, Á. L. García-Otín, E. Ros, E. Martorell, X. Pintó, M. Franco, D. Zambón, Á. Brea, M. Pocoví, F. Civeira
High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme
A. E. ten Hoedt, A. A. van Kempen, A. Boelen, M. Duran, E. A. Kemper-Proper, M. J. W. Oey-Spauwen, F. A. Wijburg, A. M. Bosch
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency
E. López-Laso, J. García-Villoria, E. Martín, P. Duque, A. Cano, A. Ribes
Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
A. Larnaout, R. Amouri, S. Neji, M. Zouari, N. Kaabachi, F. Hentati
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy
C. M. Mak, T.-S. Siu, C.-W. Lam, G. C.-F. Chan, G. W.-K. Poon, K.-Y. Wong, L. C.-K. Low, N. L. Tang, S. K. Li, K.-Y. Lau, N.-S. Kwong, S. Tam
Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia
B. Panis, M. J. P. G. van Kroonenburgh, M. E. Rubio-Gozalbo
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases
R. Buccoliero, S. Palmeri, G. Ciarleglio, A. Collodoro, M. M. De Santi, A. Federico
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe
J. Cox-Brinkman, R. G. M. Timmermans, F. A. Wijburg, W. E. Donker, A. T. van de Ploeg, J. M. F. G. Aerts, C. E. M. Hollak
Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels
M. Langeveld, E. Endert, W. M. Wiersinga, J. M. F. G. Aerts, C. E. M. Hollak
Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child
M. Fotoulaki, E. H. Schuchman, C. M. Simonaro, P. Augoustides-Savvopoulou, H. Michelakakis, P. Panagopoulou, G. Varlamis, S. Nousia-Arvanitakis
Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A
C. F. Morel, A. Gassas, J. Doyle, J. T. R. Clarke
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males
A. C. Vedder, V. E. A. Gerdes, B. J. H. M. Poorthuis, M. Helmond, M. D. Trip, J. M. F. G. Aerts, C. E. M. Hollak
Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis
E. Barkaoui, W. Cherif, N. Tebib, C. Charfeddine, F. Ben Rhouma, H. Azzouz, A. Ben Chehida, K. Monastiri, J. Chemli, F. Amri, H. Ben Turkia, M. S. Abdelmoula, N. Kaabachi, S. Abdelhak, M. F. Ben Dridi
Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia
R. Vongsuvanh, A. J. Hooper, J. C. Coakley, J. S. Macdessi, E. V. O’Loughlin, J. R. Burnett, K. J. Gaskin