Ausgabe 2/1998
Inhalt (17 Artikel)
Intravenous immune globulin in lysinuric protein intolerance
C. Dionisi-Vici, L. De Felice, M. El Hachem, S. Bottero, C. Rizzo, A. Paoloni, B. Goffredo, G. Sabetta, M. Caniglia
Varicella and varicella immunity in patients with lysinuric protein intolerance
M. Lukkarinen, K. Näntö-Salonen, O. Ruuskanen, T. Lauteala, S. Säkö, M. Nuutinen, O. Simell
The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)
B. Kristiansson, H. Stibler, N. Conradi, B. O. Eriksson, W. Ryd
Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test
P. Griffiths, R. Campbell, P. Robinson
Improvement in exercise tolerance in isovaleric acidaemia with L-carnitine therapy
P. J. Lee, E. L. Harrison, M. G. Jones, R. A. Chalmers, J. V. Leonard, B. J. Whipp
Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient
R. Parvari, J. Shen, E. Hershkovitz, Y. T. Chen, S. W. Moses
Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates
J. S. S. Sequeira, A. Vellodi, M. T. Vanier, P. T. Clayton
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion
C. Bruno, C. Minetti, Y. Tang, P. J. Magalhães, F. M. Santorelli, S. Shanske, M. Bado, G. Cordone, R. Gatti, S. DiMauro
A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation
H. Osaka, H. Sekiguchi, K. Inoue, K. Ikuta, Y. Sakakihara, A. Oka, H. Onishi, T. Miyakawa, K. Suzuki, K. Kosaka, S. Matsuyama
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
R. Barone, H. Carchon, E. Jansen, L. Pavone, A. Fiumara, N. U. Bosshard, R. Gitzelmann, J. Jaeken
Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy
K. Gücüyener, V. Seyrantepe, H. Topaloğlu, M. Özgüç
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay
S. Yap, A. A. Monavari, P. Thornton, E. Naughten
Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip
Y. Koga, T. Iwanaga, I. Yoshida, M. Yoshino, S. Kaneko, H. Kato
Impaired DNA synthesis in dermal fibroblasts from Zellweger syndrome patients
G. S. Dhaunsi, Z. Rahbeeni, M. Al-Essa, P. T. Ozand
Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics
J. Weglage, D. Wiedermann, H. Möller, K. Ullrich