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
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
Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.
Published in:
2007
By:
- Pearl, P.;
- Gospe, S.
Publication type:
Editorial
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
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
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
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
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
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
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
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
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
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