Issue 3/2007
Content (21 Articles)
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1 −/− mice and characterization of γ-hydroxybutyric acid pharmacology
I. Knerr, P. L. Pearl, T. Bottiglieri, O. Carter Snead, C. Jakobs, K. M. Gibson
Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions
R. E. Simoni, L. N. L. Ferreira Gomes, F. B. Scalco, C. P. H. Oliveira, F. R. Aquino Neto, M. L. Costa de Oliveira
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration
Y. M. Kuo, S. J. Hayflick, J. Gitschier
Regionally selective decreases in cerebral glucose metabolism in a mouse model of phenylketonuria
M. Qin, C. Beebe Smith
Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial
B. Koletzko, T. Sauerwald, H. Demmelmair, M. Herzog, U. von Schenck, H. Böhles, U. Wendel, J. Seidel
Mitochondrial disease: Needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase
G. Noorda, M. Hermans-Peters, J. Smeitink, T. van Achterberg, H. Kemps, W. Goverde, L. Schoonhoven
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
A. M. Lund, F. Joensen, D. M. Hougaard, L. K. Jensen, E. Christensen, M. Christensen, B. Nørgaard-Petersen, M. Schwartz, F. Skovby
A novel starch for the treatment of glycogen storage diseases
K. Bhattacharya, R. C. Orton, X. Qi, H. Mundy, D. W. Morley, M. P. Champion, S. Eaton, R. F. Tester, P. J. Lee
Bovine mucopolysaccharidosis type IIIB
L. Karageorgos, B. Hill, M. J. Bawden, J. J. Hopwood
High incidence of autoantibodies in Fabry disease patients
P. Martinez, M. Aggio, P. Rozenfeld
Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)
D. Haas, S. F. Garbade, C. Vohwinkel, N. Muschol, F. K. Trefz, J. M. Penzien, J. Zschocke, G. F. Hoffmann, P. Burgard
Statin therapy depresses total body fat oxidation in the absence of genetic limitations to fat oxidation
N. M. Fisher, K. Meksawan, A. Limprasertkul, P. J. Isackson, D. R. Pendergast, G. D. Vladutiu
A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset
A. Nordenström, M. Halldin, B. Hallberg, J. Alm
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation
T. Rummel, T. Suormala, J. Häberle, H. G. Koch, C. Berning, D. Perrett, B. Fowler
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance
M. A. Benninga, M. Lilien, T. J. de Koning, M. Duran, F. G. A. Versteegh, R. Goldschmeding, B. T. Poll-The
Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T>G
R. Pettman, T. Hurley, J. Addis, B. Robinson, H. Scott, J. B. Kronick
Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: A case report
M. A. Chiong, K. Carpenter, J. Christodoulou
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX
T. Geberhiwot, S. Alger, P. McKiernan, C. Packard, M. Caslake, E. Elias, R. Cramb
Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls
M. Adamowicz, R. Płoski, D. Rokicki, E. Morava, M. Giżewska, H. Mierzewska, A. Pollak, D. J. Lefeber, R. A. Wevers, E. Pronicka