Volume 38; Issue 6

Journal of Inherited Metabolic Disease

Volume 38; Issue 6

1

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 442 KB

english, 2015

2

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 480 KB

english, 2015

3

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Je

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 693 KB

english, 2015

4

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Miller, Marcus J., Kennedy, Adam D., Eckhart, Andrea D., Burrage, Lindsay C., Wulff, Jacob E., Miller, Luke A.D., Milburn, Michael V., Ryals, John A., Beaudet, Arthur L., Sun, Qin, Sutton, V. Reid, El

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 2.37 MB

english, 2015

5

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease

Schiffmann, Raphael, Swift, Caren, Wang, Xuan, Blankenship, Derek, Ries, Markus

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 297 KB

english, 2015

6

Mutation of the iron-sulfur cluster assembly geneIBA57causes fatal infantile leukodystrophy

Debray, François-Guillaume, Stümpfig, Claudia, Vanlander, Arnaud V., Dideberg, Vinciane, Josse, Claire, Caberg, Jean-Hubert, Boemer, François, Bours, Vincent, Stevens, René, Seneca, Sara, Smet, Joél,

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

7

Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis

Torres, R. J., Puig, J. G.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 893 KB

english, 2015

8

Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Leipnitz, Guilhian, Vargas, Carmen Regla, Wajner, Moacir

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 367 KB

english, 2015

9

Secondary NAD+deficiency in the inherited defect of glutamine synthetase

Hu, Liyan, Ibrahim, Khalid, Stucki, Martin, Frapolli, Michele, Shahbeck, Noora, Chaudhry, Farrukh A., Görg, Boris, Häussinger, Dieter, Penberthy, W. Todd, Ben-Omran, Tawfeg, Häberle, Johannes

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 722 KB

english, 2015

10

Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis

Borgwardt, L., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I., Lund, A. M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 552 KB

english, 2015

11

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients

Haliloglu, Goknur, Talim, Beril, Sel, Cigdem Genc, Topaloglu, Haluk

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 876 KB

english, 2015

12

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

Hochuli, Michel, Christ, Emanuel, Meienberg, Fabian, Lehmann, Roger, Krützfeldt, Jan, Baumgartner, Matthias R.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 976 KB

english, 2015

13

Lack of phosphomannomutase 2 affectsXenopus laevismorphogenesis and the non-canonical Wnt5a/Ror2 signalling

Himmelreich, Nastassja, Kaufmann, Lilian T., Steinbeisser, Herbert, Körner, Christian, Thiel, Christian

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1.60 MB

english, 2015

14

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

Casey, Jillian P., Slattery, Suzanne, Cotter, Melanie, Monavari, A. A., Knerr, Ina, Hughes, Joanne, Treacy, Eileen P., Devaney, Deirdre, McDermott, Michael, Laffan, Eoghan, Wong, Derek, Lynch, Sally A

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

15

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

S. Kölker, A. G. Cazorla, V. Valayannopoulos, A. M. Lund, A. B. Burlina, J. Sykut-cegielska, F. A. Wijburg, E. L. Teles, J. Zeman, C. Dionisi-vici, I. Barić, D. Karall, P. Augoustides-savvopoulou, L.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

File:

PDF, 86 KB

2015

16

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

S. Kölker, V. Valayannopoulos, A. B. Burlina, J. Sykut-cegielska, F. A. Wijburg, E. L. Teles, J. Zeman, C. Dionisi-vici, I. Barić, D. Karall, J. Arnoux, P. Avram, M. R. Baumgartner, J. Blasco-alonso,

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

File:

PDF, 87 KB

2015

17

Elisabeth Holme

Kollberg, Gittan, Clayton, Peter

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 269 KB

english, 2015

18

Quo vadis: the re-definition of “inborn metabolic diseases”

Morava, Eva, Rahman, Shamima, Peters, Verena, Baumgartner, Matthias R., Patterson, Marc, Zschocke, Johannes

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 331 KB

english, 2015

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