Ausgabe 8/2001
Inhalt (15 Artikel)
Modelling the phenylalanine blood level response during treatment of phenylketonuria
U. Langenbeck, J. Zschocke, U. Wendel, V. Hönig
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
Y.-H. Chien, S.-C. Chiang, A. Huang, J.-M. Lin, Y.-N. Chiu, S.-P. Chou, S.-Y. Chu, T.-R. Wang, W.-L. Hwu
Outcome of tyrosinaemia type III
C. J. Ellaway, E. Holme, S. Standing, M. A. Preece, A. Green, E. Ploechl, M. Ugarte, F. K. Trefz, J. V. Leonard
Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study
C. Tonetti, J. Amiel, A. Munnich, J. Zittoun
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine
S. H. Moolenaar, U. F. H. Engelke, N. G. G. M. Abeling, H. Mandel, M. Duran, R. A. Wevers
Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)
H. Böhles, A. C. Sewell, B. Gebhardt, A. Reinecke-Lüthge, G. Klöppel, T. Marquardt
Continuous glucose monitoring in children with glycogen storage disease type I
E. Hershkovitz, A. Rachmel, H. Ben-Zaken, M. Phillip
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: Response to riboflavin
H-R. Yoon, S. H. Hahn, Y. M. Ahn, S. H. Jang, Y. J. Shin, E. H. Lee, K. H. Ryu, B. L. Eun, P. Rinaldo, S. Yamaguchi
Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis
T. Kimura, H. Ikeda, M. Kato, A. Ito, M. Okubo, K. Hayasaka
Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete
A. Evangeliou, C. Lionis, H. Michailidou, M. Spilioti, A. Kanitsakis, P. Nikitakis, N. Drakonakis, C. Giannakopoulou, S. Sbyrakis, A. C. Sewell, H. J. Boehles, J. Smeitink, R. A. Wevers
Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia
M. Terzioglu, S. Emre, H. Özen, İ. N. Saltık, N. Koçak, G. Ciliv, A. Yüce, F. Gürakan
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation
L. Vilarinho, C. Barbot, R. Carrozzo, E. Calado, A. Tessa, C. Dionisi-Vici, A. Guimarães, F. M. Santorelli
Liver transplantation in a case of argininaemia
E. Santos Silva, E. Martins, M. L. Cardoso, C. Barbot, L. Vilarinho, M. Medina