Works matching IS 01418955 AND DT 2007 AND VI 30 AND IP 1

Results: 26

Contents.

Published in:: Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 1, doi. 10.1007/s10545-007-9987-1
Publication type:: Article

Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.

Published in:

2007

By:

Pearl, P.;
Gospe, S.

Publication type:

Editorial

Acute liver failure in pregnancy associated with maternal MCAD deficiency.

Published in:

2007

By:

Santos, L.;
Patterson, A.;
Moreea, S.;
Lippiatt, C.;
Walter, J.;
Henderson, M.

Publication type:

Report

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 23, doi. 10.1007/s10545-006-0514-6

By:

Salomons, G.;
Jakobs, C.;
Pope, L.;
Errami, A.;
Potter, M.;
Nowaczyk, M.;
Olpin, S.;
Manning, N.;
Raiman, J.;
Slade, T.;
Champion, M.;
Peck, D.;
Gavrilov, D.;
Hillman, R.;
Hoganson, G.;
Donaldson, K.;
Shield, J.;
Ketteridge, D.;
Wasserstein, M.;
Gibson, K.

Publication type:

Article

Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction.

Published in:

2007

By:

D’Eufemia, P.;
Finocchiaro, R.;
Celli, M.;
Zambrano, A.;
Tetti, M.;
Ferrucci, V.;
Lenti, L.

Publication type:

Report

Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 96, doi. 10.1007/s10545-006-0508-4

By:

Hoffmann, G.;
Schmitt, B.;
Windfuhr, M.;
Wagner, N.;
Strehl, H.;
Bagci, S.;
Franz, A.;
Mills, P.;
Clayton, P.;
Baumgartner, M.;
Steinmann, B.;
Bast, T.;
Wolf, N.;
Zschocke, J.

Publication type:

Article

Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 47, doi. 10.1007/s10545-006-0490-x

By:

Cox-Brinkman, J.;
Smeulders, M.;
Hollak, C.;
Wijburg, F.

Publication type:

Article

An OTC deficiency ‘phenocopy’ in association with Klinefelter syndrome.

Published in:

2007

By:

Swarts, L.;
Leisegang, F.;
Owen, E.;
Henderson, H.

Publication type:

Report

Late presentation of medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

2007

By:

Mayell, S.;
Edwards, L.;
Reynolds, F.;
Chakrapani, A.

Publication type:

Report

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Published in:

2007

By:

Barone, R.;
Sturiale, L.;
Fiumara, A.;
Uziel, G.;
Garozzo, D.;
Jaeken, J.

Publication type:

Report

The Dutch Fabry cohort: Diversity of clinical manifestations and Gb<sub>3</sub> levels.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 68, doi. 10.1007/s10545-006-0484-8

By:

Vedder, A.;
Linthorst, G.;
Breemen, M.;
Groener, J.;
Bemelman, F.;
Strijland, A.;
Mannens, M.;
Aerts, J.;
Hollak, C.

Publication type:

Article

Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency.

Published in:

2007

By:

Worthington, H.;
Olpin, S.;
Blumenthal, I.;
Morris, A.

Publication type:

Report

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 100, doi. 10.1007/s10545-006-0478-2

By:

Morris, A.;
Appleton, R.;
Power, B.;
Isherwood, D.;
Abernethy, L.;
Taylor, R.;
Turnbull, D.;
Verhoeven, N.;
Salomons, G.;
Jakobs, C.

Publication type:

Article

Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 79, doi. 10.1007/s10545-006-0473-y

By:

Heare, T.;
Alp, N.;
Priestman, D.;
Kulkarni, A.;
Qasba, P.;
Butters, T.;
Dwek, R.;
Clarke, K.;
Channon, K.;
Platt, F.

Publication type:

Article

A new infantile case of α- N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 108, doi. 10.1007/s10545-006-0470-1

By:

Chabás, A.;
Duque, J.;
Gort, L.

Publication type:

Article

A rationale for cystine supplementation in severe homocystinuria.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 35, doi. 10.1007/s10545-006-0452-3

By:

Lee, P.;
Briddon, A.

Publication type:

Article

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 5, doi. 10.1007/s10545-006-0451-4

By:

Kölker, S.;
Christensen, E.;
Leonard, J.;
Greenberg, C.;
Burlina, A.;
Dixon, M.;
Duran, M.;
Goodman, S.;
Koeller, D.;
Müller, E.;
Naughten, E.;
Neumaier-Probst, E.;
Okun, J.;
Kyllerman, M.;
Surtees, R.;
Wilcken, B.;
Hoffmann, G.;
Burgard, P.

Publication type:

Article

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 106, doi. 10.1007/s10545-006-0444-3

By:

Auray-Blais, C.;
Cyr, D.;
Mills, K.;
Giguère, R.;
Drouin, R.

Publication type:

Article

Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 109, doi. 10.1007/s10545-006-0438-1

By:

Augustin, G.;
Jelincic, Z.;
Majerovic, M.;
Stefancic, L.

Publication type:

Article

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 29, doi. 10.1007/s10545-006-0433-6

By:

Bosch, A.;
Tybout, W.;
Spronsen, F.;
Valk, H.;
Wijburg, F.;
Grootenhuis, M.

Publication type:

Article

Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 60, doi. 10.1007/s10545-006-0417-6

By:

Klarner, B.;
Klünemann, H.;
Lürding, R.;
Aslanidis, C.;
Rupprecht, R.

Publication type:

Article

Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 102, doi. 10.1007/s10545-006-0412-y

By:

Ristoff, E.;
Burstedt, M.;
Larsson, A.;
Wachtmeister, L.

Publication type:

Article

The natural history of Niemann–Pick disease type C in the UK.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 51, doi. 10.1007/s10545-006-0384-7

By:

Imrie, J.;
Dasgupta, S.;
Besley, G.;
Harris, C.;
Heptinstall, L.;
Knight, S.;
Vanier, M.;
Fensom, A.;
Ward, C.;
Jacklin, E.;
Whitehouse, C.;
Wraith, J.

Publication type:

Article

Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W.

Published in:

2007

By:

Ohlsson, A.;
Nasiell, J.;
Döbeln, U.

Publication type:

Report

Extracellular matrix turnover and disease severity in Anderson–Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 88, doi. 10.1007/s10545-006-0360-6

By:

Shah, J.;
Hughes, D.;
Tayebjee, M.;
MacFadyen, R.;
Mehta, A.;
Elliott, P.

Publication type:

Article

Increased lipolysis in LCHAD deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 39, doi. 10.1007/s10545-006-0296-x

By:

Halldin, M.;
Forslund, A.;
Döbeln, U.;
Eklund, C.;
Gustafsson, J.

Publication type:

Article