Molecular Genetics and Metabolism

1

The endocrine system in treated patients with classical galactosemia

M. Estela Rubio-Gozalbo, Bianca Panis, Luc J.I. Zimmermann, Leo J. Spaapen, P.P.C.A. Menheere

Journal:

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

2

LEP 3′HVR is associated with obesity and leptin levels in Brazilian individuals

Hamilton M. Hinuy, Mario H. Hirata, Marcelo F. Sampaio, Dikran Armaganijan, Luis A. Salazar, Rosario D.C. Hirata

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 288 KB

english, 2006

3

Corrigendum to “Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)” [Mol. Genet. Metab. 77 (2002) 252–256]

D. Darvish, P. Vahedifar, Y. Huo

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 75 KB

english, 2006

4

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

Maja Di Rocco, Ubaldo Caruso, Egill Briem, Andrea Rossi, Anna E.M. Allegri, Davide Buzzi, Valeria Tiranti

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

5

Lysosomal exocytosis is impaired in mucolipidosis type IV

Janice M. LaPlante, Mei Sun, John Falardeau, Daisy Dai, Edward M. Brown, Susan A. Slaugenhaupt, Peter M. Vassilev

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.06 MB

english, 2006

6

Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites

Dorit P. Jensen, Søren A. Urhammer, Hans Eiberg, Knut Borch-Johnsen, Torben Jørgensen, Torben Hansen, Oluf Pedersen

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 280 KB

english, 2006

7

Of mice and men: Galactosemia

Stanton Segal

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

8

Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts

L.S. Almeida, E.H. Rosenberg, C. Martinez-Muñoz, N.M. Verhoeven, L. Vilarinho, C. Jakobs, G.S. Salomons

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

9

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement

Libor Kozak, Eva Hrabincova, Jaromir Kintr, Ondrej Horky, Petra Zapletalova, Ivona Blahakova, Pavel Mejstrik, Dagmar Prochazkova

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.99 MB

english, 2006

10

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Stanley H. Korman, James J. Pitt, Avihu Boneh, Imad Dweikat, Mokhtar Zater, Vardiella Meiner, Alisa Gutman, Michèle Brivet

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 328 KB

english, 2006

11

Molecular analysis in two β-mannosidosis patients: Description of a new adult case

Laura Gort, Joana Duque, José M. Fabeiro, Ander Zulaica, Maria Josep Coll, Amparo Chabás

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 221 KB

english, 2006

12

Adenovirus mediated expression of human paraoxonase 2 protects against the development of atherosclerosis in apolipoprotein E-deficient mice

Carey J. Ng, Susan Y. Hama, Noam Bourquard, Mohamad Navab, Srinivasa T. Reddy

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 547 KB

english, 2006

13

Tyrosinemia type I treated by NTBC: How does AFP predict liver cancer?

C.J.L. Koelink, P. van Hasselt, A. van der Ploeg, M.M. van den Heuvel-Eibrink, F.A. Wijburg, C.M.A. Bijleveld, F.J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

14

Inborn errors of isoleucine degradation: A review

Stanley H. Korman

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 517 KB

english, 2006

15

A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation

Richard G. Boles, Megan L. Stone

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

16

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations

M.B. Coulter-Mackie, Q. Lian

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.04 MB

english, 2006

17

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

Paul J. Isackson, Michael J. Bennett, Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.61 MB

english, 2006

18

Moderate coffee and alcohol consumption improves the estrogen metabolite profile in adjuvant treated breast cancer patients: A pilot study comparing pre- and post-operative levels

T.L. Klug, E. Bågeman, C. Ingvar, C. Rose, H. Jernström

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 343 KB

english, 2006

19

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.24 MB

english, 2006

20

Author Index

Journal:

Molecular Genetics and Metabolism

Year:

2006

File:

PDF, 99 KB

2006

22

Volume Contents

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 65 KB

english, 2006

Volume 89; Issue 4

The endocrine system in treated patients with classical galactosemia

LEP 3′HVR is associated with obesity and leptin levels in Brazilian individuals

Corrigendum to “Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)” [Mol. Genet. Metab. 77 (2002) 252–256]

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

Lysosomal exocytosis is impaired in mucolipidosis type IV

Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites

Of mice and men: Galactosemia

Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Molecular analysis in two β-mannosidosis patients: Description of a new adult case

Adenovirus mediated expression of human paraoxonase 2 protects against the development of atherosclerosis in apolipoprotein E-deficient mice

Tyrosinemia type I treated by NTBC: How does AFP predict liver cancer?

Inborn errors of isoleucine degradation: A review

A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

Moderate coffee and alcohol consumption improves the estrogen metabolite profile in adjuvant treated breast cancer patients: A pilot study comparing pre- and post-operative levels

Cover 2 / Ed. Board

Table of Contents

Author Index

Volume Contents