Issue 5/2012
Content (21 Articles)
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
S. Koene, R. J. Rodenburg, M. S. van der Knaap, M. A. A. P. Willemsen, W. Sperl, V. Laugel, E. Ostergaard, M. Tarnopolsky, M. A. Martin, V. Nesbitt, J. Fletcher, S. Edvardson, V. Procaccio, A. Slama, L. P. W. J. van den Heuvel, J. A. M. Smeitink
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
Tomas Honzik, Marketa Tesarova, Martin Magner, Johannes Mayr, Pavel Jesina, Katerina Vesela, Laszlo Wenchich, Karol Szentivanyi, Hana Hansikova, Wolfgang Sperl, Jiri Zeman
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
Diego Martinelli, Johannes Häberle, Vicente Rubio, Cecilia Giunta, Ingrid Hausser, Rosalba Carrozzo, Nadine Gougeard, Clara Marco-Marín, Bianca M. Goffredo, Maria Chiara Meschini, Elsa Bevivino, Sara Boenzi, Giovanna Stefania Colafati, Francesco Brancati, Matthias R. Baumgartner, Carlo Dionisi-Vici
Long-term outcome and intervention of urea cycle disorders in Japan
Jun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi, Toshihiro Ohura, Masaki Takayanagi, Masafumi Matsuo, Makoto Yoshino, Yosuke Shigematsu, Tohru Yorifuji, Mureo Kasahara, Reiko Horikawa, Fumio Endo
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele
Peter Bross, Jane B. Frederiksen, Anne S. Bie, Jakob Hansen, Johan Palmfeldt, Marit N. Nielsen, Morten Duno, Allan M. Lund, Ernst Christensen
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
Tamaris Zwickler, Gisela Haege, Alina Riderer, Friederike Hörster, Georg F. Hoffmann, Peter Burgard, Stefan Kölker
Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI
Shawn E. Christ, Amanda J. Moffitt, Dawn Peck, Desirée A. White, Joseph Hilgard
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU)
M. Huemer, B. Simma, D. Mayr, D. Möslinger, A. Mühl, I. Schmid, H. Ulmer, O.A. Bodamer
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines
Manuel Schiff, Pierre Broue, Brigitte Chabrol, Corinne De Laet, Dalila Habes, Karine Mention, Jacques Sarles, Anne Spraul, Vassili Valayannopoulos, Hélène Ogier de Baulny
Single dose NTBC-treatment of hereditary tyrosinemia type I
A. Schlune, E. Thimm, D. Herebian, U. Spiekerkoetter
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
Caroline Regnery, Cornelia Kornblum, Frank Hanisch, Stefan Vielhaber, Nicola Strigl-Pill, Birgit Grunert, Wolfgang Müller-Felber, Franz Xaver Glocker, Matthias Spranger, Marcus Deschauer, Eugen Mengel, Benedikt Schoser
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis
Marie S. Roberts, Shannon L. Macauley, Andrew M. Wong, Denis Yilmas, Sarah Hohm, Jonathan D. Cooper, Mark S. Sands
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome
Jean-Baptiste Roullet, Louise S. Merkens, Anuradha S. Pappu, Megan D. Jacobs, Rolf Winter, William E. Connor, Robert D. Steiner
Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America
Roberto Giugliani
Internet use by parents of infants with positive newborn screens
Jane M. DeLuca, Margaret H. Kearney, Sally A. Norton, Georgianne L. Arnold
Increased arterial stiffness is associated with high cardiovascular mortality in male Fabry patients
Kathleen Nicholls
Prevalence of symptoms in female Fabry disease patients: a case-control survey
Machtelt G. Bouwman, Saskia M. Rombach, Erica Schenk, Annelies Sweeb, Frits A. Wijburg, Carla E. M. Hollak, Gabor E. Linthorst
A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers
Marco Cappa, Carla Bizzarri, Anna Petroni, Gianfranca Carta, Lina Cordeddu, Massimiliano Valeriani, Catello Vollono, Loredana De Pasquale, Milena Blasevich, Sebastiano Banni
The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency
Eduard A. Struys, Levinus A. Bok, Dina Emal, Saskia Houterman, Michel A. Willemsen, Cornelis Jakobs