Volume 35; Issue 1

Journal of Inherited Metabolic Disease

Volume 35; Issue 1

1

The 3-methylglutaconic acidurias: what’s new?

Saskia B. Wortmann, Leo A. Kluijtmans, Udo F. H. Engelke, Ron A. Wevers, Eva Morava

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 336 KB

english, 2012

2

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

Ronald J. A. Wanders, Marinus Duran, Ference J. Loupatty

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 217 KB

english, 2012

3

Amino acid metabolism in patients with propionic acidaemia

Sabine Scholl-Bürgi, Jörn Oliver Sass, Johannes Zschocke, Daniela Karall

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 136 KB

english, 2012

4

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

Ina Knerr, Natalie Weinhold, Jerry Vockley, K. Michael Gibson

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 226 KB

english, 2012

5

Inborn errors of ketogenesis and ketone body utilization

Jörn Oliver Sass

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 121 KB

english, 2012

6

Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy

William J. Zinnanti, Jelena Lazovic

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 750 KB

english, 2012

7

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, Ireneus F. de Coo, Jan G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

8

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

Ann Saada, Shimon Edvardson, Avraham Shaag, Wendy K. Chung, Reeval Segel, Chaya Miller, Chaim Jalas, Orly Elpeleg

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

9

Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS)

Elizabeth J. Hager, Jon D. Piganelli, Hubert M. Tse, K. Michael Gibson

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 365 KB

english, 2012

10

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians

Beth K. Potter, Julian Little, Pranesh Chakraborty, Jonathan B. Kronick, Jessica Evans, Julia Frei, Sarah C. Sutherland, Kumanan Wilson, Brenda J. Wilson

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 212 KB

english, 2012

11

Putting a value on the avoidance of false positive results when screening for inherited metabolic disease in the newborn

Simon Dixon, Phil Shackley, Jim Bonham, Rachel Ibbotson

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 116 KB

english, 2012

12

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation ofin-vitroenzyme activity with clinical phenotype in argininosuccinic aciduria

Katharina Engel, Jean-Marc Vuissoz, Sandra Eggimann, Murielle Groux, Christoph Berning, Liyan Hu, Vera Klaus, Dorothea Moeslinger, Saadet Mercimek-Mahmutoglu, Sylvia Stöckler, Bendicht Wermuth, Johann

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 316 KB

english, 2012

13

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Vassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, Valerie Barbier, Isabelle Desguerre, Anne Philippe, Alexandra Afenjar, Michel Mazzuca, David Cheillan, Arnold Munnich, Yves de Keyzer, Corneli

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 203 KB

english, 2012

14

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Nuria Carrillo-Carrasco, Randy J. Chandler, Charles P. Venditti

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 306 KB

english, 2012

15

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

Nuria Carrillo-Carrasco, Charles P. Venditti

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 319 KB

english, 2012

16

Clinical practice and the development of evidence

Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

17

Mutation analysis in 54 propionic acidemia patients

J. P. Kraus, E. Spector, S. Venezia, P. Estes, P. W. Chiang, G. Creadon-Swindell, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. B

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 180 KB

english, 2012

18

In response to “Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS” by van den Bosch et al.

M. Albersen, M. van der Ham, N. M. Verhoeven-Duif, F. Groenendaal, M. G. M. de Sain-van der Velden

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

19

HSD10 disease: clinical consequences of mutations in theHSD17B10gene

Johannes Zschocke

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 193 KB

english, 2012

20

Propionic acidemia: neonatal versus selective metabolic screening

S. C. Grünert, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase,

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

21

Disorders of the degradation of branched chain amino acids: What is new in clinics and laboratories?

Jörn Oliver Sass

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

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