Volume 36, Issue 1, January 2013

ISSN: 0141-8955 (Print) 1573-2665 (Online)

In this issue (21 articles)

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  1. No Access

    Original Article

    Relationship between enzyme properties and disease progression in Canavan disease

    Stephen Zano, Yasanandana S. Wijayasinghe… Pages 1-6
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  2. No Access

    Original Article

    Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

    Elisabeth Sterl, Karl Paul, Eduard Paschke… Pages 7-13
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  3. No Access

    Original Article

    Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

    David C. Bartlett, Mary Anne Preece… Pages 15-20
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    Original Article

    Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

    K. P. Coss, P. P. Doran, C. Owoeye, M. B. Codd… Pages 21-27
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  5. Original Article

    Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

    Cynthia S. Gubbels, Jolande A. Land… Pages 29-34
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    Original Article

    Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

    Jan Rasmussen, Olav W. Nielsen, Allan M. Lund… Pages 35-41
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    Original Article

    Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

    Denise Cassandrini, Maria Roberta Cilio… Pages 43-53
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    Original Article

    Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

    Tobias B. Haack, Boris Rolinski… Pages 55-62
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    Original Article

    Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment

    Kate E. C. Duberley, Andrey Y. Abramov… Pages 63-73
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  10. No Access

    Original Article

    Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children

    Hironori Nagasaka, Tohru Yorifuji… Pages 75-81
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    Original Article

    Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study

    Annalisa Sechi, Laura Deroma, Annunziata Lapolla… Pages 83-89
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  12. No Access

    Original Article

    Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome

    W. Todd Cade, Carolyn T. Spencer… Pages 91-101
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    Original Article

    Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

    Vassili Valayannopoulos, Naziha Bakouh… Pages 103-112
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  14. No Access

    Original Article

    Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome

    Zeljka Korade, Libin Xu, Karoly Mirnics… Pages 113-122
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  15. No Access

    Original Article

    Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B

    Melissa Wasserstein, James Godbold… Pages 123-127
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    Original Article

    Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

    Y. H. Chien, S. F. Peng, C. C. Yang, N. C. Lee… Pages 129-137
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  17. No Access

    Original Article

    Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method

    Emma J. Footitt, Peter T. Clayton, Kevin Mills… Pages 139-145
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  18. No Access

    Original Article

    The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis

    Annette M. M. Vernooij-van Langen… Pages 147-154
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  19. No Access

    Letter to the Editors

    New insights into creatine transporter deficiency: the importance of recycling creatine in the brain

    Jiddeke M. van de Kamp, Cornelis Jakobs… Pages 155-156
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  20. Letter to the Editor

    The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe

    Urh Groselj, Mojca Zerjav Tansek… Page 157
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