Issue 5/2004
Content (22 Articles)
Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: A preliminary review
V. L. Brumm, C. Azen, R. A. Moats, A. M. Stern, C. Broomand, M. D. Nelson, R. Koch
Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid
A. Kumps, E. Vamos, Y. Mardens, M. Abramowicz, J. Genin, P. Duez
Improvement of CDG diagnosis by combined examination of several glycoproteins
J. Fang, V. Peters, C. Körner, G. F. Hoffmann
Congenital disorder of glycosylation (CDG) type Ie. A new patient
M. T. García-Silva, G. Matthijs, E. Schollen, J. C. Cabrera, J. Sanchez del Pozo, M. Martí Herreros, R. Simón, M. Maties, E. Martín Hernández, T. Hennet, P. Briones
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings
B. Giuffrè, R. Parini, T. Rizzuti, L. Morandi, O. P. van Diggelen, C. Bruno, M. Giuffrè
Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases
P. Trioche, F. Petit, J. Francoual, V. Gajdos, L. Capel, C. Poüs, P. Labrune
Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs
X. Schneider-Yin, M. Hergersberg, M. M. Schuurmans, A. Gregor, E. I. Minder
A simple and rapid enzymatic assay for the branched-chain α-ketoacid dehydrogenase complex using high-performance liquid chromatography
G. Tajima, H. Yofune, A. D. Bahagia Febriani, Y. Nishimura, H. Ono, N. Sakura
Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann–Pick A disease
R. Buccoliero, L. Ginzburg, A. H. Futerman>
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
U. H. Schueler, T. Kolter, C. R. Kaneski, G. C. Zirzow, K. Sandhoff, R. O. Brady
Gaucher disease: Variability in phenotype among siblings
D. Amato, T. Stachiw, J. T. R. Clarke, G. E. Rivard
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
R. K. J. Olsen, M. Pourfarzam, A. A. M. Morris, R. C. Dias, I. Knudsen, B. S. Andresen, N. Gregersen, S. E. Olpin
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation
J. M. Stoler, M. A. Sabry, C. Hanley, C. L. Hoppel, V. E. Shih
Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation
C. J. Hendriksz, G. M. Moss, J. E. Wraith
Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two caseswith an intermediate phenotype
R. Hanna, M. T. McDonald, J. A. Sullivan, J. F. Mackey, V. Krishnamurthy, P. S. Kishnani
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
N. Longo, T. Fukao, R. Singh, M. Pasquali, R. G. Barrios, N. Kondo, K. M. Gibson
Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: Case presentation and review of the literature
P. DiDomenico, G. Berry, D. Bass, J. Fridge, M. Sarwal
Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition
C. Thauvin-Robinet, L. Faivre, M. L. Barbier, L. Chevret, J. Bourgeois, J. C. Netter, M. Grimaldi, D. Geneviève, H. Ogier de Baulny, F. Huet, J. M. Saudubray, J. B. Gouyon
The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update
H. Michelakakis, E. Dimitriou, I. Labadaridis
Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis
T. Kuster, T. Torresani, P. Kleinert, S. Durka, F. Neuheiser, C. W. Heizmann, H. Troxler