Issue 5/2006
Content (22 Articles)
Haematological findings in children with inborn errors of metabolism
Betul Tavil, Hatice Serapl Kalkanoglu Sivri, Turgay Coskun, Aytemiz Gurgey, Emel Ozyurek, Ali Dursun, Aysegul Tokatlı, Cigdem Altay, Fatma Gumruk
Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity
K. B. Bjugstad, L. S. Crnic, S. I. Goodman, C. R. Freed
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping
G. Maydan, B. S. Andresen, P. P. Madsen, M. Zeigler, A. Raas-Rothschild, A. Zlotogorski, A. Gutman, S. H. Korman
Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
S. Vijay, A. Patterson, S. Olpin, M. J. Henderson, S. Clark, C. Day, G. Savill, J. H. Walter
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency
H. H. Huidekoper, J. Schneider, T. Westphal, F. M. Vaz, M. Duran, F. A. Wijburg
Sleep disturbances in aspartylglucosaminuria (AGU): A questionnaire study
Niki Lindblom, Satu Kivinen, Hannu Heiskala, Maija-Liisa Laakso, Markus Kaski
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C
Markus Ries, Ellen Schaefer, Till Lührs, Latha Mani, Jana Kuhn, Marie T. Vanier, Frank Krummenauer, Andreas Gal, Michael Beck, Eugen Mengel
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease
L. B. Jardim, I. Gomes, C. B. O. Netto, D. B. Nora, U. S. Matte, F. Pereira, M. G. Burin, L. Kalakun, R. Giugliani, J. Becker
Structural and functional changes in peripheral vasculature of Fabry patients
Riikka J. Kalliokoski, Kari K. Kalliokoski, Maila Penttinen, Ilkka Kantola, Aila Leino, Jorma S. Viikari, Olli Simell, Pirjo Nuutila, Olli T. Raitakari
Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom
Hilary Burton, Simon Sanderson, Graham Shortland, Philip Lee
A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening
J. Hewlett, S. E. Waisbren
Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations
M. Maradin, K. Fumić, H. Hansikova, M. Tesarova, L. Wenchich, S. Dorner, V. Sarnavka, J. Zeman, I. Barić
LAT1 gene variants—potential factors influencing the clinical course of phenylketonuria
Miroslaw Bik-Multanowski, Jacek J. Pietrzyk
Barth syndrome presenting with acute metabolic decompensation in the neonatal period
Maria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, Amelia Morrone, Giancarlo La Marca, Barbara Garavaglia, Daniela Toniolo, Enrico Zammarchi
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy
B. Merinero, C. Pérez-Cerdá, P. Ruiz Sala, I. Ferrer, M. J. García, M. Martínez Pardo, A. Belanger-Quintana, J. L. de la Mota, E. Martin-Hernández, C. Vianey-Saban, C. Bischoff, N. Gregersen, M. Ugarte
Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome
F. Furlan, R. Santer, E. Vismara, F. Santus, G. Sersale, F. Menni, R. Parini
Portal hypertension in a patient with Hunter disease
Tomomi Kato, Koji Isogai, Koji Orii, Izumi Kuratsubo, Naomi Kondo, Tadao Orii, Yasuyuki Suzuki
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: One novel and several established mutations
Melchior C. Nierman, Jorge Peter, Kah-Lin Khoo, Joep C. Defesche
Dramatic reduction in self-injury in Lesch–Nyhan disease following S-adenosylmethionine administration
Norris Glick
Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance
L. Gömez, A. García-Cazorla, A. Gutiérrez, R. Artuch, V. Varea, J. Martín, S. Pinillos, M. A. Vilaseca
Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy
Germaine Pierre, Paul Gissen, Anupam Chakrapani, Anita McDonald, MaryAnne Preece, Joy Wright
In response to R.E. Roux et al (2006) The longest surviving patient with classical maple syrup urine disease. J Inherit Metab Dis 29:190–194
Selma E. Snyderman