Molecular Genetics and Metabolism

1

Barth syndrome in a female patient

Laure Cosson, Annick Toutain, Gilles Simard, Willem Kulik, Gabor Matyas, Agnès Guichet, Hélène Blasco, Zoha Maakaroun-Vermesse, Marie-Catherine Vaillant, Cédric Le Caignec, Alain Chantepie, François L

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 1.01 MB

english, 2012

2

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

Joseph D.T. Ndika, Kathreen Johnston, James A. Barkovich, Michael D. Wirt, Patricia O'Neill, Ofir T. Betsalel, Cornelis Jakobs, Gajja S. Salomons

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 888 KB

english, 2012

3

Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency

T.B. Williams, M. Daniels, G. Puthenveetil, R. Chang, R.Y. Wang, J.E. Abdenur

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 241 KB

english, 2012

4

Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I

Patricia I. Dickson, N. Matthew Ellinwood, Jillian R. Brown, Robert G. Witt, Steven Q. Le, Merry B. Passage, Moin U. Vera, Brett E. Crawford

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 271 KB

english, 2012

5

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

Anna Lehman, Andre Mattman, Don Sin, Peter Pare, Zheyuan Zong, Alessandra d'Azzo, Yvan Campos, Sandra Sirrs, Aleksander Hinek

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 668 KB

english, 2012

6

Expert recommendations for the laboratory diagnosis of MPS VI

T. Wood, O.A. Bodamer, M.G. Burin, V. D'Almeida, M. Fietz, R. Giugliani, S.M. Hawley, C.J. Hendriksz, W.L. Hwu, D. Ketteridge, Z. Lukacs, N.J. Mendelsohn, N. Miller, M. Pasquali, A. Schenone, K. Schoo

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 414 KB

english, 2012

7

Lysosomal enzyme can bypass the blood–brain barrier and reach the CNS following intranasal administration

Daniel A. Wolf, Leah R. Hanson, Elena L. Aronovich, Zhenhong Nan, Walter C. Low, William H. Frey II, R. Scott McIvor

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 424 KB

english, 2012

8

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

Natalie M. Gallant, Karen Leydiker, Hao Tang, Lisa Feuchtbaum, Fred Lorey, Rebecca Puckett, Joshua L. Deignan, Julie Neidich, Naghmeh Dorrani, Erica Chang, Bruce A. Barshop, Stephen D. Cederbaum, Jose

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 272 KB

english, 2012

9

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases

Chiara Cazzorla, Monica Del Rizzo, Peter Burgard, Chiara Zanco, Andrea Bordugo, Alberto B. Burlina, Alessandro P. Burlina

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 356 KB

english, 2012

10

Acadl-SNP based genotyping assay for long-chain acyl-CoA dehydrogenase deficient mice

Rita J. Luther, Alvin J.O. Almodovar, Russell Fullerton, Philip A. Wood

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 589 KB

english, 2012

11

Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder

Hélène Ogier de Baulny, Manuel Schiff, Carlo Dionisi-Vici

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 280 KB

english, 2012

12

Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders

Sabrina Mitchell, Teresa Welch-Burke, Logan Dumitrescu, Jefferson P. Lomenick, Deborah G. Murdock, Dana C. Crawford, Marshall Summar

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 234 KB

english, 2012

13

Therapeutic chaperone effect of N-Octyl 4-Epi-β-valienamine on murine GM1-gangliosidosis

Yoshiyuki Suzuki, Satoshi Ichinomiya, Mieko Kurosawa, Junichiro Matsuda, Seiichiro Ogawa, Masami Iida, Takatoshi Kubo, Miho Tabe, Masayuki Itoh, Katsumi Higaki, Eiji Nanba, Kousaku Ohno

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 489 KB

english, 2012

14

Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: Challenges in newborn dried blood spot screening

Bradford L. Therrell Jr., W. Harry Hannon, Gary Hoffman, Jelili Ojodu, Philip M. Farrell

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 303 KB

english, 2012

15

Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model

Maria Fatima Macedo, Rui Quinta, Catia Sofia Pereira, Maria Clara Sa Miranda

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 1.05 MB

english, 2012

16

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

Autumn L. Fletcher, Mark E. Pennesi, Cary O. Harding, Richard G. Weleber, Melanie B. Gillingham

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 750 KB

english, 2012

17

Effect of curcumin in a mouse model of Pelizaeus–Merzbacher disease

Li-Hua Yu, Toshifumi Morimura, Yurika Numata, Ryoko Yamamoto, Naoko Inoue, Barbara Antalfy, Yu-ichi Goto, Kimiko Deguchi, Hitoshi Osaka, Ken Inoue

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 888 KB

english, 2012

18

Human 8-oxoguanine-DNA glycosylase-1 is downregulated in human basal cell carcinoma

Xiao Xuan Huang, Richard A. Scolyer, Askar Abubakar, Gary M. Halliday

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 559 KB

english, 2012

19

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

Hitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, Takahito Wada, Mizue Iai, Sumimasa Yamashita, Hiroko Shimbo, Hirotomo Saitsu, Gajja S. Salomons, Cornelis Jakobs, Noriko Aida, Shinka Toshihiro, Tomiko Kuh

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 736 KB

english, 2012

20

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families

Sadia Saeed, Taeed A. Butt, Mehwish Anwer, Muhammad Arslan, Philippe Froguel

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 627 KB

english, 2012

21

Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration

Bianca Seminotti, Mateus Struecker da Rosa, Carolina Gonçalves Fernandes, Alexandre Umpierrez Amaral, Luisa Macedo Braga, Guilhian Leipnitz, Diogo Onofre Gomes de Souza, Michael Woontner, David M. Koe

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 316 KB

english, 2012

22

Galactosemia: When is it a newborn screening emergency?

Gerard T. Berry

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 295 KB

english, 2012

23

Editorial Board

Журнал:

Molecular Genetics and Metabolism

Рік:

2012

Мова:

english

Файл:

PDF, 33 KB

english, 2012

24

Volume 106; Issue 1

Barth syndrome in a female patient

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency

Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

Expert recommendations for the laboratory diagnosis of MPS VI

Lysosomal enzyme can bypass the blood–brain barrier and reach the CNS following intranasal administration

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases

Acadl-SNP based genotyping assay for long-chain acyl-CoA dehydrogenase deficient mice

Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder

Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders

Therapeutic chaperone effect of N-Octyl 4-Epi-β-valienamine on murine GM1-gangliosidosis

Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: Challenges in newborn dried blood spot screening

Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

Effect of curcumin in a mouse model of Pelizaeus–Merzbacher disease

Human 8-oxoguanine-DNA glycosylase-1 is downregulated in human basal cell carcinoma

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families

Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration

Galactosemia: When is it a newborn screening emergency?

Editorial Board

Table of Contents