Works matching IS 01418955 AND DT 2007 AND VI 30 AND IP 5

Results: 45

Congenital adrenal hyperplasia: Diagnostic advances.

Published in:

2007

By:

Torresani, T.;
Biason-Lauber, Anna

Publication type:

Correction Notice

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM<sub>1</sub> gangliosidosis.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 823, doi. 10.1007/s10545-007-0628-5

By:

Brunetti-Pierri, Nicola;
Mian, Asad;
Luetchke, Rebecca;
Graham, Brett

Publication type:

Article

High frequency of missense mutations in glycogen storage disease type VI.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 722, doi. 10.1007/s10545-007-0499-9

By:

Beauchamp, N.;
Taybert, J.;
Champion, M.;
Layet, V.;
Heinz-Erian, P.;
Dalton, A.;
Tanner, M.;
Pronicka, E.;
Sharrard, M.

Publication type:

Article

Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 822, doi. 10.1007/s10545-007-0640-9

By:

Michelakakis, H.;
Kariyannis, C.;
Moraitou, M.;
Dimitriou, E.;
Sarafidou, J.;
Papassotiriou, I.

Publication type:

Article

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 819, doi. 10.1007/s10545-007-0606-y

By:

Krishnamurthy, V.;
Eschrich, K.;
Boney, A.;
Sullivan, J.;
McDonald, M.;
Kishnani, P.;
Koeberl, D.

Publication type:

Article

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q<sub>10</sub> deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 827, doi. 10.1007/s10545-007-0612-0

By:

Aeby, A.;
Sznajer, Y.;
Cavé, H.;
Rebuffat, E.;
Coster, R.;
Rigal, O.;
Bogaert, P.

Publication type:

Article

Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 783, doi. 10.1007/s10545-007-0621-z

By:

Sido, P.;
Drugan, C.;
Cret, V.;
Al-Kzouz, C.;
Denes, C.;
Coldea, C.;
Zimmermann, A.

Publication type:

Article

Parotid gland involvement, the presenting sign of high grade non-Hodgkin lymphoma in two patients with Gaucher disease and sicca syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 825, doi. 10.1007/s10545-007-0610-2

By:

Shvidel, L.;
Sigler, E.;
Shtalrid, M.;
Feldberg, E.;
Berrebi, A.

Publication type:

Article

Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 816, doi. 10.1007/s10545-007-0594-y

By:

Hwu, W.-L.;
Chien, Y.-H.;
Tang, N.;
Law, L.-K.;
Lin, C.-Y.;
Lee, N.-C.

Publication type:

Article

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

Published in:

2007

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:

Correction Notice

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 631, doi. 10.1007/s10545-007-0661-4

By:

Sedel, F.;
Baumann, N.;
Turpin, J.-C.;
Lyon-Caen, O.;
Saudubray, J.-M.;
Cohen, D.

Publication type:

Article

Nutrient intake in lysinuric protein intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 716, doi. 10.1007/s10545-007-0558-2

By:

Tanner, L.;
Näntö-Salonen, K.;
Venetoklis, J.;
Kotilainen, S.;
Niinikoski, H.;
Huoponen, K.;
Simell, O.

Publication type:

Article

Mevalonic aciduria: Report of two cases.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 829, doi. 10.1007/s10545-007-0618-7

By:

Bretón Martínez, J.;
Cánovas Martínez, A.;
Casaña Pérez, S.;
Escribá Alepuz, J.;
Giménez Vázquez, F.

Publication type:

Article

Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 750, doi. 10.1007/s10545-007-0586-y

By:

Soliman, O.;
Timmermans, R.;
Nemes, A.;
Vletter, W.;
Wilson, J.;
Cate, F.;
Geleijnse, M.

Publication type:

Article

Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: Insight from animal studies.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 664, doi. 10.1007/s10545-007-0562-6

By:

Pessoa-Pureur, R.;
Wajner, M.

Publication type:

Article

Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 743, doi. 10.1007/s10545-007-0555-5

By:

Santamaria, F.;
Andreucci, M.;
Parenti, G.;
Polverino, M.;
Viggiano, D.;
Montella, S.;
Cesaro, A.;
Ciccarelli, R.;
Capaldo, B.;
Andria, G.

Publication type:

Article

Family conditions and dietary control in phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 708, doi. 10.1007/s10545-007-0493-2

By:

Olsson, G.;
Montgomery, S.;
Alm, J.

Publication type:

Article

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 813, doi. 10.1007/s10545-007-0578-y

By:

Arranz, J.;
Madrigal, I.;
Riudor, E.;
Armengol, Ll.;
Milà, M.

Publication type:

Article

Enzyme replacement therapy in 12 patients with MPS I–H/S with homozygous p.Leu490Pro mutation.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 821, doi. 10.1007/s10545-007-0551-9

By:

Arora, R.;
Mercer, J.;
Thornley, M.;
Tylee, K.;
Wraith, J.

Publication type:

Article

Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 814, doi. 10.1007/s10545-007-0496-z

By:

Rocco, M.;
Fantasia, A.;
Taro, M.;
Loy, A.;
Forlino, A.;
Martini, A.

Publication type:

Article

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 817, doi. 10.1007/s10545-007-0582-2

By:

Zia, A.;
Kolodny, E.;
Pastores, G.

Publication type:

Article

α-Ketoglutarate is the precursor of l-2-hydroxyglutarate.

Published in:

2007

By:

Brunengraber, Henri

Publication type:

Editorial

IEMs in adults.

Published in:

2007

By:

Walter, John

Publication type:

Editorial

Family conditions and dietary control in IEMs.

Published in:

2007

By:

Burgard, Peter

Publication type:

Editorial

Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 800, doi. 10.1007/s10545-007-0599-6

By:

Latini, A.;
Scussiato, K.;
Leipnitz, G.;
Gibson, K.;
Wajner, M.

Publication type:

Article

Peripheral neuropathy and inborn errors of metabolism in adults.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 642, doi. 10.1007/s10545-007-0684-x

By:

Sedel, F.;
Barnerias, C.;
Dubourg, O.;
Desguerres, I.;
Lyon-Caen, O.;
Saudubray, Jean-Marie

Publication type:

Article

Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 673, doi. 10.1007/s10545-007-0678-8

By:

Sauer, S.

Publication type:

Article

Effect of treatment on biclonal gammopathy associated with Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 824, doi. 10.1007/s10545-007-0477-2

By:

Decaux, O.;
Ruelland, A.;
Grosbois, B.

Publication type:

Article

Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 690, doi. 10.1007/s10545-007-0697-5

By:

Struys, E.;
Gibson, K.;
Jakobs, C.

Publication type:

Article

Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 758, doi. 10.1007/s10545-007-0702-z

By:

Montaño, A.;
Sukegawa, K.;
Kato, Z.;
Carrozzo, R.;
Natale, P.;
Christensen, E.;
Orii, K.;
Orii, T.;
Kondo, N.;
Tomatsu, S.

Publication type:

Article

A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 768, doi. 10.1007/s10545-007-0595-x

By:

Davies, E.;
Surtees, R.;
DeVile, C.;
Schoon, I.;
Vellodi, A.

Publication type:

Article

Natural history of the respiratory involvement in Anderson–Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 790, doi. 10.1007/s10545-007-0616-9

By:

Magage, S.;
Lubanda, J.-C.;
Susa, Z.;
Bultas, J.;
Karetová, D.;
Dobrovolný, R.;
Hřebíček, M.;
Germain, D.;
Linhart, A.

Publication type:

Article

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 818, doi. 10.1007/s10545-007-0461-x

By:

Calderon, F.;
Nelson, L.;
Dobrowolski, P.;
Sinitsyna, I.;
Phansalkar, A.;
Longo, N.;
Pasquali, M.;
Mao, R.

Publication type:

Article

Successful treatment of severe heart failure in an infant with Hurler syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 820, doi. 10.1007/s10545-007-0613-z

By:

Hirth, A.;
Berg, A.;
Greve, G.

Publication type:

Article

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 811, doi. 10.1007/s10545-007-0546-6

By:

Heil, Sandra;
Hogeveen, Marije;
Kluijtmans, Leo;
Dijken, P.;
Berg, Gerard;
Blom, Henk;
Morava, Eva

Publication type:

Article

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 654, doi. 10.1007/s10545-007-0632-9

By:

Schuchman, E.

Publication type:

Article

Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 694, doi. 10.1007/s10545-007-0549-3

By:

Huemer, M.;
Huemer, C.;
Möslinger, D.;
Huter, D.;
Stöckler-Ipsiroglu, S.

Publication type:

Article

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6 R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 700, doi. 10.1007/s10545-007-0605-z

By:

Burton, B.;
Grange, D.;
Milanowski, A.;
Vockley, G.;
Feillet, F.;
Crombez, E.;
Abadie, V.;
Harding, C.;
Cederbaum, S.;
Dobbelaere, D.;
Smith, A.;
Dorenbaum, A.

Publication type:

Article

Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 828, doi. 10.1007/s10545-007-0591-1

By:

Petroni, A.;
Cappa, M.;
Carissimi, R.;
Blasevich, M.;
Uziel, G.

Publication type:

Article

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 735, doi. 10.1007/s10545-007-0590-2

By:

Wamelink, M.;
Smith, D.;
Jansen, E.;
Verhoeven, N.;
Struys, E.;
Jakobs, C.

Publication type:

Article

Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 826, doi. 10.1007/s10545-007-0630-y

By:

Chien, Y.-H.;
Lee, N.-C.;
Tsai, L.-K.;
Huang, A.-C.;
Peng, S.-F.;
Chen, S.-J.;
Hwu, W.-L.

Publication type:

Article

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatment.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 812, doi. 10.1007/s10545-007-0567-1

By:

Bóveda, M.;
Couce, M.;
Castiñeiras, D.;
Cocho, J.;
Pérez, B.;
Ugarte, M.;
Fraga, J.

Publication type:

Article

l-2-Hydroxyglutaric aciduria, a defect of metabolite repair.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 681, doi. 10.1007/s10545-007-0487-0

By:

Rzem, R.;
Vincent, M.-F.;
Schaftingen, E.;
Veiga-da-Cunha, M.

Publication type:

Article

Prospective treatment in carnitine–acylcarnitine translocase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 815, doi. 10.1007/s10545-007-0518-x

By:

Pierre, G.;
Macdonald, A.;
Gray, G.;
Hendriksz, C.;
Preece, M.;
Chakrapani, A.

Publication type:

Article

Bilateral renal cell carcinoma development in long-term Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 830, doi. 10.1007/s10545-007-0648-1

By:

Cassiman, D.;
Claes, K.;
Lerut, E.;
Oyen, R.;
Joniau, S.;
Damme, B.;
Jaeken, J.

Publication type:

Article