Ausgabe 1/2007
Inhalt (25 Artikel)
Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy
P. L. Pearl, S. M. Gospe
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
S. Kölker, E. Christensen, J. V. Leonard, C. R. Greenberg, A. B. Burlina, A. P. Burlina, M. Dixon, M. Duran, S. I. Goodman, D. M. Koeller, E. Müller, E. R. Naughten, E. Neumaier-Probst, J. G. Okun, M. Kyllerman, R. A. Surtees, B. Wilcken, G. F. Hoffmann, P. Burgard
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency
G. S. Salomons, C. Jakobs, L. Landegge Pope, A. Errami, M. Potter, M. Nowaczyk, S. Olpin, N. Manning, J. A. J. Raiman, T. Slade, M. P. Champion, D. Peck, D. Gavrilov, R. Hillman, G. E. Hoganson, K. Donaldson, J. P. H. Shield, D. Ketteridge, M. Wasserstein, K. M. Gibson
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria
A. M. Bosch, W. Tybout, F. J. van Spronsen, H. W. de Valk, F. A. Wijburg, M. A. Grootenhuis
A rationale for cystine supplementation in severe homocystinuria
P. J. Lee, A. Briddon
Increased lipolysis in LCHAD deficiency
M. U. Halldin, A. Forslund, U. von Döbeln, C. Eklund, J. Gustafsson
Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy
J. Cox-Brinkman, M. J. C. Smeulders, C. E. M. Hollak, F. A. Wijburg
The natural history of Niemann–Pick disease type C in the UK
J. Imrie, S. Dasgupta, G. T. N. Besley, C. Harris, L. Heptinstall, S. Knight, M. T. Vanier, A. H. Fensom, C. Ward, E. Jacklin, C. Whitehouse, J. E. Wraith
Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations
B. Klarner, H. H. Klünemann, R. Lürding, C. Aslanidis, R. Rupprecht
The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels
A. C. Vedder, G. E. Linthorst, M. J. van Breemen, J. E. M. Groener, F. J. Bemelman, A. Strijland, M. M. A. M. Mannens, J. M. F. G. Aerts, C. E. M. Hollak
Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment
T. Heare, N. J. Alp, D. A. Priestman, A. B. Kulkarni, P. Qasba, T. D. Butters, R. A. Dwek, K. Clarke, K. M. Channon, F. M. Platt
Extracellular matrix turnover and disease severity in Anderson–Fabry disease
J. S. Shah, D. A. Hughes, M. H. Tayebjee, R. J. MacFadyen, A. B. Mehta, P. M. Elliott
Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy
G. F. Hoffmann, B. Schmitt, M. Windfuhr, N. Wagner, H. Strehl, S. Bagci, A. R. Franz, P. B. Mills, P. T. Clayton, M. R. Baumgartner, B. Steinmann, T. Bast, N. I. Wolf, J. Zschocke
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy
A. A. M. Morris, R. E. Appleton, B. Power, D. M. Isherwood, L. J. Abernethy, R. W. Taylor, D. M. Turnbull, N. M. Verhoeven, G. S. Salomons, C. Jakobs
An OTC deficiency ‘phenocopy’ in association with Klinefelter syndrome
L. Swarts, F. Leisegang, E. P. Owen, H. E. Henderson
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency
E. Ristoff, M. Burstedt, A. Larsson, L. Wachtmeister
Acute liver failure in pregnancy associated with maternal MCAD deficiency
L. Santos, A. Patterson, S. M. Moreea, C. M. Lippiatt, J. Walter, M. Henderson
Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency
H. Worthington, S. E. Olpin, I. Blumenthal, A. A. M. Morris
Late presentation of medium-chain acyl-CoA dehydrogenase deficiency
S. J. Mayell, L. Edwards, F. E. Reynolds, A. B. Chakrapani
Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W
A. Ohlsson, J. Nasiell, U. von Döbeln
Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction
P. D’Eufemia, R. Finocchiaro, M. Celli, A. Zambrano, M. Tetti, V. Ferrucci, L. Lenti
Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease
C. Auray-Blais, D. Cyr, K. Mills, R. Giguère, R. Drouin
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)
R. Barone, L. Sturiale, A. Fiumara, G. Uziel, D. Garozzo, J. Jaeken
A new infantile case of α-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom
A. Chabás, J. Duque, L. Gort
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III
G. Augustin, Z. Jelincic, M. Majerovic, L. Stefancic