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Volume 104; Issue 1-2

Molecular Genetics and Metabolism

Volume 104; Issue 1-2

1

Down syndrome: Issues to consider in a national registry, research database and biobank

Linda L. McCabe, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 131 KB

english, 2011

2

The contribution of the mitochondrial COI/tRNASer(UCN) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients

Małgorzata Rydzanicz, Karolina Cywińska, Maciej Wróbel, Agnieszka Pollak, Wojciech Gawęcki, Irena Wojsyk-Banaszak, Urszula Lechowicz, Małgorzata Mueller-Malesińska, Monika Ołdak, Rafał Płoski, Henryk

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 874 KB

english, 2011

3

Non-PKU mild hyperphenylalaninemia (MHP) — The dilemma

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 156 KB

english, 2011

4

Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Anne Davit-Spraul, Monique Piraud, Dries Dobbelaere, Vassili Valayannopoulos, Philippe Labrune, Dalila Habes, Olivier Bernard, Emmanuel Jacquemin, Christiane Baussan

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 330 KB

english, 2011

5

Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients

Maureen Humphrey, Judy Nation, Ivan Francis, Avihu Boneh

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 184 KB

english, 2011

6

Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Sylvia Stockler, Barbara Plecko, Sidney M. Gospe Jr., Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein,

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 361 KB

english, 2011

7

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Ying Wang, Rachel Busin, Catherine Reeves, Lena Bezman, Gerald Raymond, Cicely J. Toomer, Paul A. Watkins, Ann Snowden, Ann Moser, Sakkubai Naidu, Genila Bibat, Stacy Hewson, Karen Tam, Joe T.R. Clark

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 821 KB

english, 2011

8

Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells

Shiho Kawagoe, Takashi Higuchi, Xing-Li Meng, Yohta Shimada, Hiromi Shimizu, Reimi Hirayama, Takahiro Fukuda, Hsi Chang, Tatsutoshi Nakahata, So-ichiro Fukada, Hiroyuki Ida, Hiroshi Kobayashi, Toya Oh

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.38 MB

english, 2011

9

The neurology of biotinidase deficiency

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 290 KB

english, 2011

10

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

Jae Hyuk Choi, Barbara Stubblefield, Mark R. Cookson, Ehud Goldin, Arash Velayati, Nahid Tayebi, Ellen Sidransky

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 527 KB

english, 2011

11

RNA expressions of AHR, ARNT and CYP1B1 are influenced by AHR Arg554Lys polymorphism

Simone Helmig, Jens Udo Seelinger, Juliane Döhrel, Joachim Schneider

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 439 KB

english, 2011

12

Moving toward personalized cell-based interventions for adrenal cortical disorders: Part 2 — Human diseases and tissue engineering

Jaime K. Mazilu, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 490 KB

english, 2011

13

Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease

N.A.M.E. van der Beek, C.I. van Capelle, K.I. van der Velden-van Etten, W.C.J. Hop, B. van den Berg, A.J.J. Reuser, P.A. van Doorn, A.T. van der Ploeg, H. Stam

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 882 KB

english, 2011

14

Experimental evidence of oxidative stress in plasma of homocystinuric patients: A possible role for homocysteine

Camila Simioni Vanzin, Giovana Brondani Biancini, Angela Sitta, Carlos Alberto Yasin Wayhs, Izabela Netto Pereira, Francieli Rockenbach, Solange Cristina Garcia, Angela Terezinha de Souza Wyse, Ida Va

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 363 KB

english, 2011

15

Moving toward personalized cell-based interventions for adrenal cortical disorders: Part 1 — Adrenal development and function, and roles of transcription factors and signaling proteins

Jaime K. Mazilu, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 223 KB

english, 2011

16

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease

Marina Moraitou, Georgios Hadjigeorgiou, Ioannis Monopolis, Efthimios Dardiotis, Maria Bozi, Demitris Vassilatis, Lluisa Vilageliu, Daniel Grinberg, Georgia Xiromerisiou, Leonidas Stefanis, Helen Mich

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

17

Personalized genomic medicine: Lessons from the exome

Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Donald W. Hadley, NISC Comparative Sequencing Program, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Pedro Cruz, Alice C. Young, Robert W. Blakes

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 214 KB

english, 2011

18

NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT

Gerrit John, John P. Hegarty, Wei Yu, Arthur Berg, Danielle M. Pastor, Ashley A. Kelly, Yunhua Wang, Lisa S. Poritz, Stefan Schreiber, Walter A. Koltun, Zhenwu Lin

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 639 KB

english, 2011

19

The evolution of the search for novel genes in mammalian sex determination: From mice to men

Valerie A. Arboleda, Eric Vilain

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 153 KB

english, 2011

20

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

Shailly Jain-Ghai, Sandesh C. Sreenath Nagamani, Susan Blaser, Komudi Siriwardena, Annette Feigenbaum

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 492 KB

english, 2011

21

Mucolipidosis II complicated by severe pulmonary hypertension

Alexander Kovacevic, Dietmar Schranz, Thomas Meissner, Frank Pillekamp, Klaus G. Schmidt

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 109 KB

english, 2011

22

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies

Georgirene D. Vladutiu, Paul J. Isackson, Kenneth Kaufman, John B. Harley, Beth Cobb, Lisa Christopher-Stine, Robert L. Wortmann

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 208 KB

english, 2011

23

The enigma of the E326K mutation in acid β-glucocerebrosidase

Mia Horowitz, Metsada Pasmanik-Chor, Idit Ron, Edwin H. Kolodny

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 421 KB

english, 2011

24

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

Kevin A. Strauss, Joan Brumbaugh, Alana Duffy, Bridget Wardley, Donna Robinson, Christine Hendrickson, Silvia Tortorelli, Ann B. Moser, Erik G. Puffenberger, Nicholas L. Rider, D. Holmes Morton

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.50 MB

english, 2011

25

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions

Areeg H. El-Gharbawy, Joanne Mackey, Stephanie DeArmey, Greg Westby, Sherry G. Grinnell, Peggy Malovrh, Robert Conway, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 156 KB

english, 2011

26

Down syndrome: National conference on patient registries, research databases, and biobanks

Mary Lou Oster-Granite, Melissa A. Parisi, Leonard Abbeduto, Dorit S. Berlin, Cathy Bodine, Dana Bynum, George Capone, Elaine Collier, Dan Hall, Lisa Kaeser, Petra Kaufmann, Jeffrey Krischer, Michelle

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 314 KB

english, 2011

27

Personalized medicine for individuals with Down syndrome

Linda L. McCabe, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

28

Thoroughly modern medicine

Georgianne L. Arnold, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 187 KB

english, 2011

29

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

Arnold J. Reuser, Frans W. Verheijen, Deeksha Bali, Otto P. van Diggelen, Dominique P. Germain, Wuh-Liang Hwu, Zoltan Lukacs, Adolf Mühl, Petra Olivova, Monique Piraud, Birgit Wuyts, Kate Zhang, Joan

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 187 KB

english, 2011

30

The use of individual patient's fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 693 KB

english, 2011

31

How the practice of allergy shows the promise and challenge of personalized medicine

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 140 KB

english, 2011

32

Epigenetics and the developmental origins of lung disease

Lisa A. Joss-Moore, Kurt H. Albertine, Robert H. Lane

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 420 KB

english, 2011

33

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 31 KB

english, 2011

34

Tablel of Contents

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 112 KB

english, 2011