Works matching IS 01418955 AND DT 2008 AND VI 31 AND IP 6

Results: 18

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 745, doi. 10.1007/s10545-008-0873-2

By:

Cox-Brinkman, J.;
Breemen, M.;
Maldegem, B.;
Bour, L.;
Donker, W.;
Hollak, C.;
Wijburg, F.;
Aerts, J.

Publication type:

Article

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 680, doi. 10.1007/s10545-008-1025-4

By:

Fowler, B.;
Burlina, A.;
Kozich, V.;
Vianey-Saban, C.

Publication type:

Article

Quality of diagnostic mutation analyses for phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 697, doi. 10.1007/s10545-008-1052-1

By:

Zschocke, J.;
Aulehla-Scholz, C.;
Patton, S.

Publication type:

Article

The unexplored potential of the pentose phosphate pathway in health and disease.

Published in:

2008

By:

Berry, Gerard

Publication type:

Editorial

External Quality Assurance of laboratory analyses.

Published in:

2008

By:

Pollitt, Rodney

Publication type:

Editorial

Intravascular ultrasound assessment of coronary artery involvement in Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 753, doi. 10.1007/s10545-008-0794-0

By:

Kovarnik, T.;
Mintz, G.;
Karetova, D.;
Horak, J.;
Bultas, J.;
Skulec, R.;
Skalicka, H.;
Aschermann, M.;
Elleder, M.;
Linhart, A.

Publication type:

Article

The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A review.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 703, doi. 10.1007/s10545-008-1015-6

By:

Wamelink, M.;
Struys, E.;
Jakobs, C.

Publication type:

Article

Qualitative urinary organic acid analysis: Methodological approaches and performance.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 690, doi. 10.1007/s10545-008-0986-7

By:

Peters, V.;
Garbade, S.;
Langhans, C.;
Hoffmann, G.;
Pollitt, R.;
Downing, M.;
Bonham, J.

Publication type:

Article

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 738, doi. 10.1007/s10545-008-0868-z

By:

Fairley, C.;
Zimran, A.;
Phillips, M.;
Cizmarik, M.;
Yee, J.;
Weinreb, N.;
Packman, S.

Publication type:

Article

On the nomenclature of congenital disorders of glycosylation (CDG).

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 669, doi. 10.1007/s10545-008-0983-x

By:

Jaeken, J.;
Hennet, T.;
Freeze, H.;
Matthijs, G.

Publication type:

Article

Long-term compliance with a novel vitamin and mineral supplement in older people with PKU.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 718, doi. 10.1007/s10545-008-0960-4

By:

MacDonald, A.;
Lee, P.;
Davies, P.;
Daly, A.;
Lilburn, M.;
Gokmen Ozel, H.;
Preece, M.;
Hendriksz, C.;
Chakrapani, A.

Publication type:

Article

Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 761, doi. 10.1007/s10545-008-0999-2

By:

McAndrew, R.;
Vockley, J.;
Kim, J.-J.

Publication type:

Article

Arginine supplementation in four patients with X-linked creatine transporter defect.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 724, doi. 10.1007/s10545-008-0902-1

By:

Fons, C.;
Sempere, A.;
Arias, A.;
López-Sala, A.;
Póo, P.;
Pineda, M.;
Mas, A.;
Vilaseca, M.;
Salomons, G.;
Ribes, A.;
Artuch, R.;
Campistol, J.

Publication type:

Article

Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 733, doi. 10.1007/s10545-008-0980-0

By:

Bagewadi, S.;
Roberts, J.;
Mercer, J.;
Jones, S.;
Stephenson, J.;
Wraith, J.

Publication type:

Article

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465).

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 777, doi. 10.1007/s10545-008-0846-5

By:

Vallance, H.;
Sirrs, S.;
Bamforth, F.;
Stockler-Ipsiroglu, S.

Publication type:

Article

Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 729, doi. 10.1007/s10545-008-0919-5

By:

Bernier, A.;
Sentner, C.;
Correia, C.;
Theriaque, D.;
Shuster, J.;
Smit, G.;
Weinstein, D.

Publication type:

Article

SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 662, doi. 10.1007/s10545-008-0941-7

By:

Drasbek, K.;
Vardya, I.;
Delenclos, M.;
Gibson, K.;
Jensen, K.

Publication type:

Article

The truth of treating patients with phenylketonuria after childhood: The need for a new guideline.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 673, doi. 10.1007/s10545-008-0918-6

By:

Spronsen, F.;
Burgard, P.

Publication type:

Article