Issue 6/1997
Content (29 Articles)
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)
B. Fowler, R.B.H. Schutgens, D.S. Rosenblatt, G.P.A. Smit, J. Lindemans
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer
C.M. Lin, Y. Tan, Y.M. Lee, C.C. Chang, K.J. Hsiao
Cerebral metabolic changes in biotinidase deficiency
M. Schürmann, V. Engelbrecht, K. Lohmeier, H. G. Lenard, U. Wendel, J. Gärtner
Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency
M. A. García-Pérez, C. Climent, P. Briones, M. A. Vilaseca, M. Rodés, V. Rubio
Essential fatty acids in clinically stable children with propionic acidaemia
T. Decsi, W. Sperl, B. Koletzko
Inborn errors of metabolism with a protein-restricted diet: Effect on polyunsaturated fatty acids
P. Sanjurjo, J. I. Ruiz, M. Montejo
Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth
J. M. Nuoffer, P. E. Mullis, U. N. Wiesmann
Aspartylglucosaminuria among Palestinian Arabs
J. Zlotogora, Z. Ben-Neriah, B. Y. Abu-Libdeh, M. Zeigler
Mutations among Italian mucopolysaccharidosis type I patients
R. Gatti, P. DiNatale, G.R.D. Villani, M. Filocamo, V. Muller, X.-H. Guo, P.V. Nelson, H.S. Scott, J. J. Hopwood
Allergic disease as an association of steroid sulphatase deficiency
N. Sakura, S. Nishimura, T. Matsumoto, M. Ohsaki, T. Ogata
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria
S. Naidu, S.R. Dlouhy, M.T. Geraghty, M.E. Hodes
A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity
J. Charlwood, P. Clayton, A. Johnson, G. Keir, N. Mian, B. Winchester
Absence of common trifunctional protein mutation in patients with Alpers disease
Z. Yang, R. Youil, D. Thorburn, C. W. Chow, R. G. H. Cotton, G. S. Baldwin
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria
H. N. Bass, D. LaGrave, R. Mardach, S. D. Cederbaum, C. D. Fuster, M. Chetty
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect
S. Grünewald, J. Bakkeren, R. A. Wanders, U. Wendel
Mitochondrial respiratory chain succinate-cytochrome-c oxidoreductase deficiency and hepatic cirrhosis
A. C. Sewell, J. Herwig, H. J. Böhles, W. Sperl
N-Acetylglutamate synthetase deficiency responding to carbamylglutamate
J. Hinnie, J. P. Colombo, B. Wermuth, F. J. Dryburgh
Clinically asymptomatic glutaric aciduria type I in a 4 5/12-year-old girl with bilateral temporal arachnoid cysts
C. Renner, S. Razeghi, M. A. Überall, P. Hartmann, W. Lehnert
Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency
E. Mayatepek, H. G. Koch, G. F. Hoffmann
Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India
P. Guldberg, K. F. Henriksen, K. C. Mammen, H. L. Levy, F. Güttler
Leucine and glucose kinetics in glycogen storage disease type IIIa
O. A. F. Bodamer, E. Mayatepek, J. V. Leonard
L-3-Hydroxyacyl-CoA dehydrogenase deficiency: Two cases with pigmentary retinopathy
J. Uusimaa, L. Vainionpää, S. Similä, R. Miettinen, M. Nuutinen