Molecular Genetics and Metabolism

1

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis

Junko Kanno, Shigeo Kure, Ayumi Narisawa, Fumiaki Kamada, Masaru Takayanagi, Katsuya Yamamoto, Hisao Hoshino, Tomohide Goto, Takao Takahashi, Kazuhiro Haginoya, Shigeru Tsuchiya, Fritz A.M. Baumeister

Journal:

Year:

2007

Language:

english

File:

PDF, 516 KB

english, 2007

2

Neurological and brain MRS findings in patients with Gaucher disease type 1

Saadet Mercimek-Mahmutoglu, Stephan Gruber, Arndt Rolfs, Andreas Stadlbauer, Christian Woeber, Peter Kurnik, Till Voigtlaender, Ewald Moser, Sylvia Stoeckler-Ipsiroglu

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 398 KB

english, 2007

3

Commentary on Wilcken et al.

Fredrik Palm

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 80 KB

english, 2007

4

Unusually mild phenotype of AADC deficiency in 2 siblings

S.K.H. Tay, K.S. Poh, K. Hyland, Y.W. Pang, H.T. Ong, P.S. Low, D.L.M. Goh

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 235 KB

english, 2007

5

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

Chike Bellarmine Item, Ivana Mihalek, Oliver Lichtarge, Anil Jalan, Julia Vodopiutz, Adolf Muhl, Olaf A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 367 KB

english, 2007

6

Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI

Dyane Auclair, John J. Hopwood, Jeffrey F. Lemontt, Lin Chen, Sharon Byers

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.49 MB

english, 2007

7

Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis

C.M. Westermann, M.G.M. de Sain-van der Velden, J.H. van der Kolk, R. Berger, I.D. Wijnberg, J.P. Koeman, R.J.A. Wanders, J.A. Lenstra, N. Testerink, A.B. Vaandrager, C. Vianey-Saban, C. Acquaviva-Bou

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 795 KB

english, 2007

8

Chemical chaperone rescue of mutant human cystathionine β-synthase

Laishram R. Singh, Xulin Chen, Viktor Kožich, Warren D. Kruger

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 521 KB

english, 2007

9

Muscular glycogen storage diseases without increased glycogen content on histopathological examination

M. Hoeksma, W.F.A. den Dunnen, K.E. Niezen-Koning, O.P. van Diggelen, F.J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 346 KB

english, 2007

10

Mutation analysis a prerequisite for prenatal diagnosis of l-2-hydroxyglutaric aciduria?

P. Augoustides-Savvopoulou, G.S. Salomons, J. Dotis, E. Roilides, M. Leontsini, C. Jakobs, C. Panteliadis

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 104 KB

english, 2007

11

Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria

Alejandra Gámez, Lin Wang, Christineh N. Sarkissian, Dan Wendt, Paul Fitzpatrick, Jeffrey F. Lemontt, Charles R. Scriver, Raymond C. Stevens

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.17 MB

english, 2007

12

α-Aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by α-aminoadipic semialdehyde dehydrogenase deficiency

Eduard A. Struys, C. Jakobs

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 85 KB

english, 2007

13

Asymmetric dimethylarginine (ADMA) in vascular, renal and hepatic disease and the regulatory role of l-arginine on its metabolism

David E.L. Wilcken, Ah Siew Sim, Jun Wang, Xing Li Wang

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 184 KB

english, 2007

14

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

Michael L. Hawes, William Kennedy, Michael W. O’Callaghan, Beth L. Thurberg

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.09 MB

english, 2007

15

Coordinated control of both insulin secretion and insulin action through calpain-10-mediated regulation of exocytosis?

Mark D. Turner

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 110 KB

english, 2007

16

Targeted suppression of calpain-10 expression impairs insulin-stimulated glucose uptake in cultured primary human skeletal muscle cells

Audrey E. Brown, Stephen J. Yeaman, Mark Walker

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 321 KB

english, 2007

17

Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway

Jean-Marc Alberto, Julien Hamelet, Christophe Noll, Sébastien Blaise, Jean-Pierre Bronowicki, Jean-Louis Guéant, Jean-Maurice Delabar, Nathalie Janel

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 176 KB

english, 2007

18

Gaucher disease: Different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family

Lara M. El-Zahabi, Jawad Makarem, Zuheir Habbal, Zaher K. Otrock, Ali Taher, Ali Shamseddine

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 194 KB

english, 2007

19

Third Robert Guthrie Memorial Lecture

Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 353 KB

english, 2007

20

Hugo Moser

Gerald Raymond

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 172 KB

english, 2007

21

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 670 KB

english, 2007

22

Volume 91; Issue 4

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis

Neurological and brain MRS findings in patients with Gaucher disease type 1

Commentary on Wilcken et al.

Unusually mild phenotype of AADC deficiency in 2 siblings

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI

Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis

Chemical chaperone rescue of mutant human cystathionine β-synthase

Muscular glycogen storage diseases without increased glycogen content on histopathological examination

Mutation analysis a prerequisite for prenatal diagnosis of l-2-hydroxyglutaric aciduria?

Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria

α-Aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by α-aminoadipic semialdehyde dehydrogenase deficiency

Asymmetric dimethylarginine (ADMA) in vascular, renal and hepatic disease and the regulatory role of l-arginine on its metabolism

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

Coordinated control of both insulin secretion and insulin action through calpain-10-mediated regulation of exocytosis?

Targeted suppression of calpain-10 expression impairs insulin-stimulated glucose uptake in cultured primary human skeletal muscle cells

Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway

Gaucher disease: Different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family

Third Robert Guthrie Memorial Lecture

Hugo Moser

Cover 2 / Ed. Board

Table of Contents