Volume 34; Issue 2

Journal of Inherited Metabolic Disease

Volume 34; Issue 2

1

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency

Saskia Koene, Peter H. G. M. Willems, Peggy Roestenberg, Werner J. H. Koopman, Jan A. M. Smeitink

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 286 KB

english, 2011

2

Biochemical diagnosis of mitochondrial disorders

Richard J. T. Rodenburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 207 KB

english, 2011

3

A history of mitochondrial diseases

Salvatore DiMauro

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 681 KB

english, 2011

4

Altering the balance between healthy and mutated mitochondrial DNA

Paul M. Smith, Robert N. Lightowlers

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 124 KB

english, 2011

5

Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations

Hélène Cwerman-Thibault, José-Alain Sahel, Marisol Corral-Debrinski

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 477 KB

english, 2011

6

Classic galactosemia: dietary dilemmas

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

7

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction

Saskia Koene, Jan Smeitink

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 316 KB

english, 2011

8

FSH isoform pattern in classic galactosemia

Cynthia S. Gubbels, Chris M. G. Thomas, Will K. W. H. Wodzig, André J. Olthaar, Jaak Jaeken, Fred C. G. J. Sweep, M. Estela Rubio-Gozalbo

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 375 KB

english, 2011

9

Voice disorders in children with classic galactosemia

Nancy L. Potter

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 179 KB

english, 2011

10

Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L. Fridovich-Keil, Cynthia S. Gubbels, Jessica B. Spencer, Rebecca D. Sanders, Jolande A. Land, Estela Rubio-Gozalbo

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 202 KB

english, 2011

11

Biomarkers for mitochondrial respiratory chain disorders

Anu Suomalainen

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 177 KB

english, 2011

12

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

Gerard T. Berry, Louis J. Elsas

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 155 KB

english, 2011

13

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation

Sarah-Louise Cottinet, Anne-Marie Bergemer-Fouquet, Annick Toutain, Frédérique Sabourdy, Zoha Maakaroun-Vermesse, Thierry Levade, Alain Chantepie, François Labarthe

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 579 KB

english, 2011

14

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

Kia Jane Langford-Smith, Jean Mercer, June Petty, Karen Tylee, Heather Church, Jane Roberts, Gill Moss, Simon Jones, Rob Wynn, J. Ed Wraith, Brian W. Bigger

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 318 KB

english, 2011

15

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase

Stinne P. Schmidt, Thomas J. Corydon, Christina B. Pedersen, Søren Vang, Johan Palmfeldt, Vibeke Stenbroen, Ronald J. A. Wanders, Jos P. N. Ruiter, Niels Gregersen

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 381 KB

english, 2011

16

Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

Sofia T. Duarte, Carlos Ortez, Ana Pérez, Rafael Artuch, Angels García-Cazorla

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

17

Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

Gerard T. Berry

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 341 KB

english, 2011

18

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group

Andreas Gal, Derralynn A. Hughes, Bryan Winchester

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

19

Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)

Chris J. Gardner, Nicola Robinson, Tim Meadows, Robert Wynn, Andrew Will, Jean Mercer, Heather J. Church, Karen Tylee, J. Edmond Wraith, Peter E. Clayton

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 367 KB

english, 2011

20

Dystonic tremor caused by mutation of the glucose transporter geneGLUT1

Anne Roubergue, Emmanuelle Apartis, Valérie Mesnage, Diane Doummar, Jean-Marc Trocello, Emmanuel Roze, Guillaume Taieb, Thierry Billette De Villemeur, Sandrine Vuillaumier-Barrot, Marie Vidailhet, Ric

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

21

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

Lu Tan, Srinivas B. Narayan, Jie Chen, Gail Ditewig Meyers, Michael J. Bennett

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

22

Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions

Inge Timmers, Job van den Hurk, Francesco Di Salle, M. Estela Rubio-Gozalbo, Bernadette M. Jansma

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 361 KB

english, 2011

23

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life

Amber E. ten Hoedt, Heleen Maurice-Stam, Carolien C. A. Boelen, M. Estela Rubio-Gozalbo, Francjan J. van Spronsen, Frits A. Wijburg, Annet M. Bosch, Martha A. Grootenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 139 KB

english, 2011

24

The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons

Katja Brauburger, Gerhard Burckhardt, Birgitta C. Burckhardt

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 213 KB

english, 2011

25

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

Julia B. Hennermann, Peter Schadewaldt, Barbara Vetter, Yoon S. Shin, Eberhard Mönch, Jeannette Klein

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 206 KB

english, 2011

26

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity

Philip Stein, Ruhua Yang, Jun Liu, Gregory M. Pastores, Pramod K. Mistry

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 375 KB

english, 2011

27

UK experience of liver transplantation for erythropoietic protoporphyria

Joanna K. Dowman, Briget K. Gunson, Darius F. Mirza, Mike N. Badminton, Philip N. Newsome, on behalf of the UK Liver Selection and Allocation Working Party

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 174 KB

english, 2011

28

Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie)

Michel C. Tchan, Nicole Graf, David O. Sillence

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 250 KB

english, 2011

29

Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time

Charlotte Dawson, Elaine Murphy, Charlé Maritz, Heidi Chan, Charlotte Ellerton, R. H. S. Carpenter, Robin H. Lachmann

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 157 KB

english, 2011

30

A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria

Sarah H. L. Yi, Julie A. Kable, Marian L. Evatt, Rani H. Singh

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 170 KB

english, 2011

31

Gender variability in presentation with Alpers’ syndrome: a report of eight patients from the UAE

Khalid Mohamed, Waseem FathAllah, Elamin Ahmed

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 78 KB

english, 2011

32

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

Emma J. Footitt, Simon J. Heales, Philippa B. Mills, George F. G. Allen, Marcus Oppenheim, Peter T. Clayton

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 301 KB

english, 2011

33

Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging

Elin Haf Davies, Kiran K. Seunarine, Tina Banks, Chris A. Clark, Ashok Vellodi

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 378 KB

english, 2011

34

Psychosocial developmental milestones in men with classic galactosemia

Cynthia Sophia Gubbels, Heleen Maurice-Stam, Gerard Thomas Berry, Annet Maria Bosch, Susan Waisbren, Maria Estela Rubio-Gozalbo, Martha Alexandra Grootenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 106 KB

english, 2011

35

Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots

Dae-Hyun Ko, Sun-Hee Jun, Kyoung Un Park, Sang Hoon Song, Jin Q Kim, Junghan Song

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 273 KB

english, 2011

36

Mitochondrial medicine

Saskia Koene, Jan Smeitink

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 60 KB

english, 2011

37

Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia

Björn Hoffmann, Udo Wendel, Susanne Schweitzer-Krantz

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 195 KB

english, 2011

38

Erratum to: Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

Gerard T. Berry

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски