Issue 1/2006
Content (52 Articles)
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview
R. Castro, I. Rivera, H. J. Blom, C. Jakobs, I. Tavares de Almeida
D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect
Eduard A. Struys
Asymmetric dimethylarginine in homocystinuria due to cystathionine β-synthase deficiency: Relevance of renal function
David E. L. Wilcken, Jun Wang, Ah Siew Sim, Kathryn Green, Bridget Wilcken
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
V. Leuzzi, C. Carducci, C. Carducci, F. Chiarotti, C. Artiola, T. Giovanniello, I. Antonozzi
Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU)
A. M. Hvas, E. Nexo, J. B. Nielsen
Cardiomyopathy in tyrosinaemia type I is common but usually benign
N. Arora, O. Stumper, J. Wright, D. A. Kelly, P. J. McKiernan
Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia
L. Aldámiz-Echevarría, P. Sanjurjo, J. Elorz, J. A. Prieto, C. Pérez, F. Andrade, J. Rodríguez-Soriano
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase
C. Mir, E. Lopez-Viñas, R. Aledo, B. Puisac, C. Rizzo, C. Dionisi-Vici, F. Deodato, J. Pié, P. Gomez-Puertas, F. G. Hegardt, N. Casals
Fatty acid oxidation in the human fetus: Implications for fetal and adult disease
Nadia A. Oey, Jos P. N. Ruiter, Tania Attié-Bitach, Lodewijk IJlst, Ronald J. A. Wanders, Frits A. Wijburg
The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005
D. M. Frazier, D. S. Millington, S. E. McCandless, D. D. Koeberl, S. D. Weavil, S. H. Chaing, J. Muenzer
Measurement of ATP production in mitochondrial disorders
R. K. Shepherd, N. Checcarelli, A. Naini, D. C. De Vivo, S. DiMauro, C. M. Sue
Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients
A. El-Beshlawy, L. Ragab, I. Youssry, K. Yakout, H. El-Kiki, K. Eid, I. M. Mansour, S. Abd El-Hamid, M. Yang, P. K. Mistry
Psychological complications of patients with Gaucher disease
W. Packman, T. Wilson Crosbie, A. Riesner, C. Fairley, S. Packman
Manifestations of Fabry disease in placental tissue
A. C. Vedder, A. Strijland, M. A. vd Bergh Weerman, S. Florquin, J. M. F. G. Aerts, C. E. M. Hollak
The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease
R. J. Kalliokoski, I. Kantola, K. K. Kalliokoski, E. Engblom, J. Sundell, J. C. Hannukainen, T. Janatuinen, O. T. Raitakari, J. Knuuti, M. Penttinen, J. Viikari, P. Nuutila
Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis
J.-Y. Lu, S. L. Hofmann
Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency
L. Wang, W.-M. Yu, C. He, M. Chang, M. Shen, Z. Zhou, Z. Zhang, S. Shen, T.-T. Liu, K.-J. Hsiao
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy
C. Conter, M. O. Rolland, D. Cheillan, V. Bonnet, I. Maire, R. Froissart
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency
Elizabeth A. Donarum, Dietrich A. Stephan, Kay Larkin, Eric J. Murphy, Maneesh Gupta, Henry Senephansiri, Robert C. Switzer, Phillip L. Pearl, O. Carter Snead, C. Jakobs, K. Michael Gibson
Biochemical compared to molecular diagnosis in acute intermittent porphyria
U. Groß, H. Puy, K. Jacob, J. C. Deybach, J. Kremer, M. O. Doss
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children
R. A. Chalmers, M. D. Bain, H. Michelakakis, J. Zschocke, R. A. Iles
Acrodermatitis acidaemia secondary to ‘overtreatment’ and protein deficiency
G. F. Hoffmann, R. Happle, S. Kölker
A study on the nature of genetic metabolic practice at a major paediatric referral centre
H. C. Glass, A. Feigenbaum, J. T. R. Clarke
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
A. B. Burlina, A. Peduto, A. Di Palma, A. Bellizzi, D. Sperlì, A. Morrone, A. P. Burlina
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD)
E. Robberecht, S. Maesen, A. Jonckheere, S. Van Biervliet, D. Carton
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation
S. Fecarotta, G. Parenti, P. Vajro, A. Zuppaldi, R. Della Casa, M. T. Carbone, A. Correra, G. Torre, S. Riva, C. Dionisi-Vici, F. M. Santorelli, G. Andria
The longest-surviving patient with classical maple syrup urine disease
Carel le Roux, Elaine Murphy, Maggie Lilburn, Philip J. Lee
Atypical phenotype in a boy with a maple syrup urine disease
T. I. Ben-Omran, S. Blaser, H. Phillips, J. Callahan, A. Feigenbaum
Neuropsychometric outcome predictors for adults with maple syrup urine disease
C. le Roux, E. Murphy, P. Hallam, M. Lilburn, D. Orlowska, P. Lee
Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family
C. Sansaricq, S. Pardo, M. Balwani, M. Grace, K. Raymond
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke
L. Pinto, P. Zen, R. Rosa, G. Paskulin, A. Perla, L. Barea, M. R. Baumgartner, M. F. Dantas, B. Fowler, R. Giugliani, C. Vargas, M. Wajner, C. Graziadio
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency
R. Aledo, C. Mir, R. N. Dalton, C. Turner, J. Pié, F. G. Hegardt, N. Casals, M. P. Champion
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report
M. J. H. Coenen, J. A. M. Smeitink, M. H. Farhoud, L. G. J. Nijtmans, R. Rodenburg, A. Janssen, E. P. M. van Kaauwen, F. J. M. Trijbels, L. P. van den Heuvel
X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
I. M. Anselm, F. S. Alkuraya, G. S. Salomons, C. Jakobs, A. B. Fulton, M. Mazumdar, M. Rivkin, R. Frye, T. Young Poussaint, D. Marsden
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
P. Póo-Argüelles, A. Arias, M. A. Vilaseca, A. Ribes, R. Artuch, A. Sans-Fito, A. Moreno, C. Jakobs, G. Salomons
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction
D. H. J. Martens, T. W. Kuijpers, N. A. Maianski, J. P. Rake, G. P. A. Smit, G. Visser
The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II
H. R. Mundy, J. E. Williams, A. J. Cousins, P. J. Lee
Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I
A. T. Anbu, J. Mercer, J. E. Wraith
Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries
H. Ishii, T. Takahashi, M. Toyono, M. Tamura, K. Harada, M. Yoshida, Y. Nishikawa, K. Enomoto, G. Takada
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia
S. H. Hahn, S. J. Minnich, J. F. O’Brien
Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia
L. J. Schlapbach, A. Sozzo, G. Ramelli, M. G. Bianchetti
Dietary compliance in ornithine aminotransferase deficiency
Lucia Santos, White J. Fiona, John H. Walter
Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency
Konrad Oexle