Works matching IS 01418955 AND DT 2008 AND VI 31 AND IP 4

Results: 10

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 540, doi. 10.1007/s10545-008-0867-0

By:

Engelmann, G.;
Meyburg, J.;
Shahbek, N.;
Al-Ali, M.;
Hairetis, M.;
Baker, A.;
Rodenburg, R.;
Wenning, D.;
Flechtenmacher, C.;
Ellard, S.;
Smeitink, J.;
Hoffmann, G.;
Buchanan, C.

Publication type:

Article

Glutaric aciduria type I: outcome following detection by newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 503, doi. 10.1007/s10545-008-0912-z

By:

Bijarnia, S.;
Wiley, V.;
Carpenter, K.;
Christodoulou, J.;
Ellaway, C.;
Wilcken, B.

Publication type:

Article

Profiling of astrocyte properties in the hyperammonaemic brain: Shedding new light on the pathophysiology of the brain damage in hyperammonaemia.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 492, doi. 10.1007/s10545-008-0834-9

By:

Lichter-Konecki, U.

Publication type:

Article

Human carbamoyl-phosphate synthetase: Insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 481, doi. 10.1007/s10545-008-0913-y

By:

Ahuja, V.;
Powers-Lee, S.

Publication type:

Article

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 508, doi. 10.1007/s10545-008-0900-3

By:

Vylet’al, P.;
Hůlková, H.;
Živná, M.;
Berná, L.;
Novák, P.;
Elleder, M.;
Kmoch, S.

Publication type:

Article

Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening.

Published in:

2008

By:

Downing, M.;
Manning, N.;
Dalton, R.;
Krywawych, S.;
Oerton, J.

Publication type:

Letter

Correlates of language impairment in children with galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 524, doi. 10.1007/s10545-008-0877-y

By:

Potter, N.;
Lazarus, J.-A.;
Johnson, J.;
Steiner, R.;
Shriberg, L.

Publication type:

Article

Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 473, doi. 10.1007/s10545-008-0878-x

By:

Sawaf, S.;
Mayatepek, E.;
Hoffmann, B.

Publication type:

Article

Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 518, doi. 10.1007/s10545-008-0884-z

By:

Elstein, D.;
Doniger, G.;
Simon, E.;
Korn-Lubetzki, I.;
Navon, R.;
Zimran, A.

Publication type:

Article

FDG-PET findings in patients with galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 533, doi. 10.1007/s10545-008-0806-0

By:

Dubroff, J.;
Ficicioglu, C.;
Segal, S.;
Wintering, N.;
Alavi, A.;
Newberg, A.

Publication type:

Article