Volume 86; Issue 1-2

Molecular Genetics and Metabolism

Volume 86; Issue 1-2

1

Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics

F. Bauduer, D. Lacombe

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 427 KB

english, 2005

2

Penetration, diffusion, and uptake of recombinant human α-l-iduronidase after intraventricular injection into the rat brain

P.V. Belichenko, P.I. Dickson, M. Passage, S. Jungles, W.C. Mobley, E.D. Kakkis

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 671 KB

english, 2005

3

Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)

Cecilia Giunta, Ann Randolph, Beat Steinmann

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 383 KB

english, 2005

4

Mitochondrial energy metabolism is markedly impaired by d-2-hydroxyglutaric acid in rat tissues

Alexandra Latini, Cleide Gonçalves da Silva, Gustavo C. Ferreira, Patrícia F. Schuck, Karina Scussiato, João J. Sarkis, Carlos S. Dutra Filho, Angela T.S. Wyse, Clóvis M.D. Wannmacher, Moacir Wajner

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 382 KB

english, 2005

5

Cardiac manifestations in the mouse model of mucopolysaccharidosis I

Maria C. Jordan, Yi Zheng, Sergey Ryazantsev, Nora Rozengurt, Kenneth P. Roos, Elizabeth F. Neufeld

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.20 MB

english, 2005

6

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease

Slavka Vrabelova, Ondrej Letocha, Marek Borsky, Libor Kozak

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 438 KB

english, 2005

7

The major allele of the alanine:glyoxylate aminotransferase gene: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1

Marion B. Coulter-Mackie, Qun Lian, Derek Applegarth, Jennifer Toone

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 299 KB

english, 2005

8

Lack of association between certain candidate gene polymorphisms and the metabolic syndrome

Aline Meirhaeghe, Dominique Cottel, Philippe Amouyel, Jean Dallongeville

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 292 KB

english, 2005

9

Commentary on Vrabelova et al.

Hartmut H.-J. Schmidt

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

10

Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency

Zhili Lin, Jamie M. Fontaine, Dennis E. Freer, Edwin W. Naylor

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 400 KB

english, 2005

11

A novel splice site mutation of the arginine vasopressin–neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus

Hyun-Jung Tae, Ki-Hyun Baek, Sun-Mi Shim, Soon-Jib Yoo, Moo-Il Kang, Bong-Yun Cha, Kwang-Woo Lee, Ho-Young Son, Sung-Koo Kang

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 339 KB

english, 2005

12

Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency

C.B. Item, S. Stöckler-Ipsiroglu, C. Willheim, A. Mühl, O.A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 438 KB

english, 2005

13

Functional analysis of four naturally occurring variants of human constitutive androstane receptor

Shinobu Ikeda, Kouichi Kurose, Hideto Jinno, Kimie Sai, Shogo Ozawa, Ryuichi Hasegawa, Kazuo Komamura, Takeshi Kotake, Hideki Morishita, Shiro Kamakura, Masafumi Kitakaze, Hitonobu Tomoike, Tomohide T

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 302 KB

english, 2005

14

Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria

Lin Wang, Alejandra Gamez, Christineh N. Sarkissian, Mary Straub, Marianne G. Patch, Gye Won Han, Steve Striepeke, Paul Fitzpatrick, Charles R. Scriver, Raymond C. Stevens

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 381 KB

english, 2005

15

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

Melanie B. Gillingham, Richard G. Weleber, Martha Neuringer, William E. Connor, Monte Mills, Sandy van Calcar, James ver Hoeve, Jon Wolff, Cary O. Harding

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 354 KB

english, 2005

16

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene

Paul J. Isackson, Heather Bujnicki, Cary O. Harding, Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 255 KB

english, 2005

17

Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria in monozygotic twins

Vinod K. Misra, Eduard A. Struys, William O’Brien, Gajja S. Salomons, Thomas Glover, Cornelis Jakobs, Jeffrey W. Innis

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

18

High follicular phase luteinizing hormone levels in young healthy BRCA1 mutation carriers: Implications for breast and ovarian cancer risk

Helena Jernström, Åke Borg, Håkan Olsson

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 267 KB

english, 2005

19

Pisrt1, a gene implicated in XX sex reversal, is expressed in gonads of both sexes during mouse development

Kelly A. Loffler, Alexander N. Combes, Dagmar Wilhelm, Annemiek Beverdam, Jo Bowles, Peter Koopman

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 313 KB

english, 2005

20

Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation

Paola Luzi, Mohammad A. Rafi, Mariam Zaka, Han Zhi Rao, Mark Curtis, Marie T. Vanier, David A. Wenger

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 452 KB

english, 2005

21

Néstor A. Chamoles, M.D. (1938–2005)

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 47 KB

english, 2005

22

Effects of the peroxisome proliferator-activated receptor-γ co-activator-1 Gly482Ser variant on features of the metabolic syndrome

Marie-Claude Vohl, Alain Houde, Stéphan Lebel, Frédéric-Simon Hould, Picard Marceau

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 251 KB

english, 2005

23

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy

Emily Gottlieb, Carla Ciccone, Daniel Darvish, Shahrouz Naiem-Cohen, Marinos C. Dalakas, Paul J. Savelkoul, Donna M. Krasnewich, William A. Gahl, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 250 KB

english, 2005

24

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

Anna Díaz-Font, Raül Santamaría, Mònica Cozar, Mariana Blanco, Néstor Chamoles, Maria Josep Coll, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 273 KB

english, 2005

25

The genetic basis of bone marrow failure syndromes in children

Noah Federman, Kathleen M. Sakamoto

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 341 KB

english, 2005

26

Niemann–Pick C disease: Use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

Gilles Millat, Nathalie Baïlo, Sabine Molinero, Céline Rodriguez, Karim Chikh, Marie T. Vanier

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 365 KB

english, 2005

27

Expanding the diagnostic and research toolbox for inborn errors of metabolism: The role of magnetic resonance spectroscopy

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

28

Evolutionary conservation of biotinidase: Implications for the enzyme’s structure and subcellular localization

Barry Wolf, Kevin Jensen

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.11 MB

english, 2005

29

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation

Dobrawa Napierala, Xavier Garcia-Rojas, Kathy Sam, Keiko Wakui, Connie Chen, Roberto Mendoza-Londono, Guang Zhou, Qiping Zheng, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 590 KB

english, 2005

30

Gene therapy for inborn errors of liver metabolism

Nicola Brunetti-Pierri, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 346 KB

english, 2005

31

Atypical variants of nonketotic hyperglycinemia

Argirios Dinopoulos, Yoichi Matsubara, Shigeo Kure

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 2.13 MB

english, 2005

32

Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox

Peter Wieacker, Ilse Wieland

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 228 KB

english, 2005

33

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport

Chantal F. Morel, David Watkins, Patrick Scott, Piero Rinaldo, David S. Rosenblatt

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 540 KB

english, 2005

34

DAX1 origin, function, and novel role

K.K. Niakan, E.R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 518 KB

english, 2005

35

Genetic and genomic systems to study methylmalonic acidemia

R.J. Chandler, C.P. Venditti

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 435 KB

english, 2005

36

Homozygous carnitine palmitoyltransferase 1a (liver isoform) deficiency is lethal in the mouse

Lara R. Nyman, Keith B. Cox, Charles L. Hoppel, Janos Kerner, Barry L. Barnoski, Doug A. Hamm, Liqun Tian, Trenton R. Schoeb, Philip A. Wood

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 361 KB

english, 2005

37

Disorders of purine and pyrimidine metabolism

William L. Nyhan

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 268 KB

english, 2005

38

The role of the insulin-like growth factor system in prenatal growth

Ruvdeep Randhawa, Pinchas Cohen

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 190 KB

english, 2005

39

DHPLC in clinical molecular diagnostic services

Kenjiro Kosaki, Toru Udaka, Torayuki Okuyama

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 350 KB

english, 2005

40

Optic atrophies in metabolic disorders

Marjan Huizing, Brian P. Brooks, Yair Anikster

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 277 KB

english, 2005

41

SIMD/Ucyclyd Fellowship

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 62 KB

english, 2005

42

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 322 KB

english, 2005

43

Table of Contents

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 48 KB

english, 2005

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