Issue 1/2012
Content (21 Articles)
Disorders of the degradation of branched chain amino acids: What is new in clinics and laboratories?
Jörn Oliver Sass
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
Ronald J. A. Wanders, Marinus Duran, Ference J. Loupatty
The 3-methylglutaconic acidurias: what’s new?
Saskia B. Wortmann, Leo A. Kluijtmans, Udo F. H. Engelke, Ron A. Wevers, Eva Morava
Inborn errors of ketogenesis and ketone body utilization
Jörn Oliver Sass
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects
Ina Knerr, Natalie Weinhold, Jerry Vockley, K. Michael Gibson
Propionic acidemia: neonatal versus selective metabolic screening
S. C. Grünert, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase, I. Knerr, T. Marquardt, J. B. Hennermann, R. Steinfeld, S. Beblo, H. G. Koch, V. Konstantopoulou, S. Scholl-Bürgi, A. van Teeffelen-Heithoff, T. Suormala, W. Sperl, J. P. Kraus, A. Superti-Furga, K. O. Schwab, J. O. Sass
Mutation analysis in 54 propionic acidemia patients
J. P. Kraus, E. Spector, S. Venezia, P. Estes, P. W. Chiang, G. Creadon-Swindell, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase, I. Knerr, T. Marquardt, J. B. Hennermann, R. Steinfeld, S. Beblo, H. G. Koch, V. Konstantopoulou, S. Scholl-Bürgi, A. van Teeffelen-Heithoff, T. Suormala, M. Ugarte, W. Sperl, A. Superti-Furga, K. O. Schwab, S. C. Grünert, J. O. Sass
Amino acid metabolism in patients with propionic acidaemia
Sabine Scholl-Bürgi, Jörn Oliver Sass, Johannes Zschocke, Daniela Karall
Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy
William J. Zinnanti, Jelena Lazovic
HSD10 disease: clinical consequences of mutations in the HSD17B10 gene
Johannes Zschocke
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
Nuria Carrillo-Carrasco, Randy J. Chandler, Charles P. Venditti
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes
Nuria Carrillo-Carrasco, Charles P. Venditti
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians
Beth K. Potter, Julian Little, Pranesh Chakraborty, Jonathan B. Kronick, Jessica Evans, Julia Frei, Sarah C. Sutherland, Kumanan Wilson, Brenda J. Wilson
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
Ann Saada, Shimon Edvardson, Avraham Shaag, Wendy K. Chung, Reeval Segel, Chaya Miller, Chaim Jalas, Orly Elpeleg
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria
Katharina Engel, Jean-Marc Vuissoz, Sandra Eggimann, Murielle Groux, Christoph Berning, Liyan Hu, Vera Klaus, Dorothea Moeslinger, Saadet Mercimek-Mahmutoglu, Sylvia Stöckler, Bendicht Wermuth, Johannes Häberle, Jean-Marc Nuoffer
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, Ireneus F. de Coo, Jan G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap, Gajja S. Salomons, Grazia M. S. Mancini
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect
Vassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, Valerie Barbier, Isabelle Desguerre, Anne Philippe, Alexandra Afenjar, Michel Mazzuca, David Cheillan, Arnold Munnich, Yves de Keyzer, Cornelis Jakobs, Gajja S. Salomons, Pascale de Lonlay
Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS)
Elizabeth J. Hager, Jon D. Piganelli, Hubert M. Tse, K. Michael Gibson
Putting a value on the avoidance of false positive results when screening for inherited metabolic disease in the newborn
Simon Dixon, Phil Shackley, Jim Bonham, Rachel Ibbotson
In response to “Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS” by van den Bosch et al.
M. Albersen, M. van der Ham, N. M. Verhoeven-Duif, F. Groenendaal, M. G. M. de Sain-van der Velden