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Volume 27, Number 5, 2004

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Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: A preliminary review
pp. 549-566(18)
Authors: Brumm, V. L.; Azen, C.; Moats, R. A.; Stern, A. M.; Broomand, C.; Nelson, M. D.; Koch, R.

Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid
pp. 567-579(13)
Authors: Kumps, A.; Vamos, E.; Mardens, Y.; Abramowicz, M.; Genin, J.; Duez, P.

Improvement of CDG diagnosis by combined examination of several glycoproteins
pp. 581-590(10)
Authors: Fang, J.; Peters, V.; Körner, C.; Hoffmann, G.

Congenital disorder of glycosylation (CDG) type Ie. A new patient
pp. 591-600(10)
Authors: García-Silva, M.; Matthijs, G.; Schollen, E.; Cabrera, J.; del Pozo, J.; Herreros, M.; Simón, R.; Maties, M.; Hernández, E.; Hennet, T.; Briones, P.

The impact of galactosaemia on quality of life—A pilot study
pp. 601-608(8)
Authors: Lambert, C.; Boneh, A.

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings
pp. 609-620(12)
Authors: Giuffrè, B.; Parini, R.; Rizzuti, T.; Morandi, L.; van Diggelen, O. P.; Bruno, C.; Giuffrè, M.

pp. 620-620(1)

Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases
pp. 621-623(3)
Authors: Trioche, P.; Petit, F.; Francoual, J.; Gajdos, V.; Capel, L.; Poüs, C.; Labrune, P.

Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs
pp. 625-631(7)
Authors: Schneider-Yin, X.; Hergersberg, M.; Schuurmans, M. M.; Gregor, A.; Minder, E. I.

A simple and rapid enzymatic assay for the branched-chain α-ketoacid dehydrogenase complex using high-performance liquid chromatography
pp. 633-639(7)
Authors: Tajima, G.; Yofune, H.; Bahagia Febriani, A. D.; Nishimura, Y.; Ono, H.; Sakura, N.

Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann–Pick A disease
pp. 641-648(8)
Authors: Buccoliero, R.; Ginzburg, L.; Futerman>, A. H.

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
pp. 649-658(10)
Authors: Schueler, U. H.; Kolter, T.; Kaneski, C. R.; Zirzow, G. C.; Sandhoff, K.; Brady, R. O.

Gaucher disease: Variability in phenotype among siblings
pp. 659-669(11)
Authors: Amato, D.; Stachiw, T.; Clarke, J. T. R.; Rivard, G. E.

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
pp. 671-678(8)
Authors: Olsen, R. K. J.; Pourfarzam, M.; Morris, A. A. M.; Dias, R. C.; Knudsen, I.; Andresen, B. S.; Gregersen, N.; Olpin, S. E.

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation
pp. 679-684(6)
Authors: Stoler, J. M.; Sabry, M. A.; Hanley, C.; Hoppel, C. L.; Shih, V. E.

Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation
pp. 685-686(2)
Authors: Hendriksz, C. J.; Moss, G. M.; Wraith, J. E.

Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two caseswith an intermediate phenotype
pp. 687-690(4)
Authors: Hanna, R.; McDonald, M. T.; Sullivan, J. A.; Mackey, J. F.; Krishnamurthy, V.; Kishnani, P. S.

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
pp. 691-692(2)
Authors: Longo, N.; Fukao, T.; Singh, R.; Pasquali, M.; Barrios, R. G.; Kondo, N.; Gibson, K. M.

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition
pp. 700-704(5)
Authors: Thauvin-Robinet, C.; Faivre, L.; Barbier, M. L.; Chevret, L.; Bourgeois, J.; Netter, J. C.; Grimaldi, M.; Geneviève, D.; Ogier de Baulny, H.; Huet, F.; Saudubray, J. M.; Gouyon, J. B.

The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update
pp. 705-706(2)
Authors: Michelakakis, H.; Dimitriou, E.; Labadaridis, I.

Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis
pp. 707-709(3)
Authors: Kuster, T.; Torresani, T.; Kleinert, P.; Durka, S.; Neuheiser, F.; Heizmann, C. W.; Troxler, H.

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