Works matching IS 01418955 AND DT 2005 AND VI 28 AND IP 6

Results: 61

Abstracts of the 3rd International Cystinosis Conference 2004—Looking Forward in Cystinosis.

Published in:

2005

By:

Hoff, William

Publication type:

Abstract

Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 903, doi. 10.1007/s10545-005-0161-3

By:

Baykal, T.;
Gokcay, G.;
Gokdemir, Y.;
Demir, F.;
Seckin, Y.;
Demirkol, M.;
Jensen, K.;
Wolf, B.

Publication type:

Article

Anxiety and depression in the acute porphyrias.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1099, doi. 10.1007/s10545-005-4561-1

By:

Millward, L.;
Kelly, P.;
King, A.;
Peters, T.

Publication type:

Article

Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 951, doi. 10.1007/s10545-005-0233-4

By:

Wamelink, M.;
Smith, D.;
Jakobs, C.;
Verhoeven, N.

Publication type:

Article

Methylmalonic aciduria: Follow-up and enzymology on the original case after 36 years.

Published in:

2005

By:

Bain, M.;
Till, J.;
Jones, M.;
Besley, G.;
Lee, P.;
Oliveira, D.;
Chalmers, R.

Publication type:

Report

Mucopolysaccharidosis I under enzyme replacement therapy with laronidase—A mortality case with autopsy report.

Published in:

2005

By:

Lin, H.-Y.;
Lin, S.-P.;
Chuang, C.-K.;
Chen, M.-R.;
Chen, B.-F.;
Wraith, J.

Publication type:

Report

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 979, doi. 10.1007/s10545-005-0201-z

By:

Ruijter, G.;
Boer, M.;
Weykamp, C.;
Vries, R.;
Berg, I.;
Janssens-Puister, J.;
Niezen-Koning, K.;
Wevers, R.;
Poorthuis, B.;
Diggelen, O.

Publication type:

Article

Mucopolysaccharidosis I: α- L-Iduronidase mutations in three Tunisian families.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1019, doi. 10.1007/s10545-005-0197-4

By:

Laradi, S.;
Tukel, T.;
Erazo, M.;
Shabbeer, J.;
Chkioua, L.;
Khedhiri, S.;
Ferchichi, S.;
Chaabouni, M.;
Miled, A.;
Desnick, R.

Publication type:

Article

Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 863, doi. 10.1007/s10545-005-0153-3

By:

Ormazabal, A.;
Vilaseca, M.;
Pérez-Dueñas, B.;
Lambruschini, N.;
Gómez, L.;
Campistol, J.;
Artuch, R.

Publication type:

Article

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

Published in:

2005

By:

Cavicchi, C.;
Donati, M.;
Pasquini, E.;
Poggi, G.;
Dionisi-Vici, C.;
Parini, R.;
Zammarchi, E.;
Morrone, A.

Publication type:

Report

Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 971, doi. 10.1007/s10545-005-0150-6

By:

Kodama, H.;
Sato, E.;
Gu, Y.-H.;
Shiga, K.;
Fujisawa, C.;
Kozuma, T.

Publication type:

Article

Marrow stromal cells from patients affected by MPS I differentially support haematopoietic progenitor cell development.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1045, doi. 10.1007/s10545-005-0136-4

By:

Baxter, M.;
Wynn, R.;
Schyma, L.;
Holmes, D.;
Wraith, J.;
Fairbairn, L.;
Bellantuono, I.

Publication type:

Article

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 945, doi. 10.1007/s10545-005-0184-9

By:

MÜHlhausen, C.;
Schneppenheim, R.;
Budde, U.;
Merkel, M.;
Muschol, N.;
Ullrich, K.;
Santer, R.

Publication type:

Article

The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 845, doi. 10.1007/s10545-005-0122-x

By:

Hoeksma, M.;
Rijn, M.;
Verkerk, P.;
Bosch, A.;
Mulder, M.;
Klerk, J.;
Koning, T.;
Rubio-Gozalbo, E.;
Vries, M.;
Sauer, P.;
Spronsen, F.

Publication type:

Article

Cumulative incidence rates of the mucopolysaccharidoses in Germany.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1011, doi. 10.1007/s10545-005-0112-z

By:

Baehner, F.;
Schmiedeskamp, C.;
Krummenauer, F.;
Miebach, E.;
Bajbouj, M.;
Whybra, C.;
Kohlschütter, A.;
Kampmann, C.;
Beck, M.

Publication type:

Article

Mutation spectrum of type I glycogen storage disease in Hungary.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 939, doi. 10.1007/s10545-005-0186-7

By:

Miltenberger-Miltenyi, G.;
Szonyi, L.;
Balogh, L.;
Utermann, G.;
Janecke, A.

Publication type:

Article

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.

Published in:

2005

By:

Engbers, H.;
Dorland, L.;
Sain, M.;
Eskes, P.;
Visser, G.

Publication type:

Report

Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman.

Published in:

2005

By:

Vinzio, S.;
Perrin, A.;
Forestier, E.;
Schlienger, J.;
Goichot, B.

Publication type:

Report

Dietary rescue of fumble—a Drosophila model for pantothenate-kinase-associated neurodegeneration.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1055, doi. 10.1007/s10545-005-0200-0

By:

Yang, Y.;
Wu, Z.;
Kuo, Y.;
Zhou, B.

Publication type:

Article

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: Two novel PMM2 mutations.

Published in:

2005

By:

Coman, D.;
Klingberg, S.;
Morris, D.;
McGill, J.;
Mercer, H.

Publication type:

Report

S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 885, doi. 10.1007/s10545-005-0192-9

By:

Barić, I.;
Ćuk, M.;
Fumić, K.;
Vugrek, O.;
Allen, R.;
Glenn, B.;
Maradin, M.;
Pažanin, L.;
Pogribny, I.;
Radoš, M.;
Sarnavka, V.;
Schulze, A.;
Stabler, S.;
Wagner, C.;
Zeisel, S.;
Mudd, S.

Publication type:

Article

Predicting the phenylalanine blood concentration from urine analyses. An approach to noninvasive monitoring of patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 855, doi. 10.1007/s10545-005-0160-4

By:

Langenbeck, U.;
Baum, F.;
Mench-Hoinowski, A.;
Luthe, H.;
Behbehani, A.

Publication type:

Article

A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 991, doi. 10.1007/s10545-005-0117-7

By:

Pham, N.-A.;
Gal, M.;
Bagshaw, R.;
Mohr, A.;
Chue, B.;
Richardson, T.;
Callahan, J.

Publication type:

Article

Body composition in children with galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 931, doi. 10.1007/s10545-005-0189-4

By:

Panis, B.;
Forget, P.;
Nieman, F.;
Kroonenburgh, M.;
RubioGozalbo, M.

Publication type:

Article

Retinitis pigmentosa in mevalonate kinase deficiency.

Published in:

2005

By:

Balgobind, B.;
Wittebol-Post, D.;
Frenkel, J.

Publication type:

Report

Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high–pressure liquid chromatography–electrospray ionization tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1109, doi. 10.1007/s10545-005-0133-7

By:

Schmidt, C.;
Hofmann, U.;
Kohlmüller, D.;
Mürdter, T.;
Zanger, U.;
Schwab, M.;
Hoffmann, G.

Publication type:

Article

Gordon syndrome and succinylcholine.

Published in:

2005

By:

Puura, A.;
Schultz, R.

Publication type:

Report

Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 871, doi. 10.1007/s10545-005-0059-0

By:

Pierik, L.;
Spronsen, F.;
Bijleveld, C.;
Dael, C.

Publication type:

Article

Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature.

Published in:

2005

By:

Rocco, M.;
Hennet, T.;
Grubenmann, C.;
Pagliardini, S.;
Allegri, A.;
Frank, C.;
Aebi, M.;
Vignola, S.;
Jaeken, J.

Publication type:

Report

Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.

Published in:

2005

By:

Haas, D.;
Armbrust, S.;
Haas, J.-P.;
Zschocke, J.;
Mühlmann, K.;
Fusch, C.;
Neumann, L.

Publication type:

Report

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall.

Published in:

2005

By:

Soorani-Lunsing, R.;
Spronsen, F.;
Stolte-Dijkstra, I.;
Wanders, R.;
Ferdinandusse, S.;
Waterham, H.;
Poll-The, B.;
Rake, J.

Publication type:

Report

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.

Published in:

2005

By:

Luttikhuis, H.;
Touati, G.;
Rabier, D.;
Williams, M.;
Jakobs, C.;
Saudubray, J.

Publication type:

Report

Influence of D-arabitol and ribitol on neuronal network activity.

Published in:

2005

By:

Klusmann, A.;
Fleischer, W.;
Waldhaus, A.;
Siebler, M.;
Mayatepek, E.

Publication type:

Report

Kinetic characterization of human hydroxyacid–oxoacid transhydrogenase: Relevance to D-2-hydroxyglutaric and γ-hydroxybutyric acidurias.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 921, doi. 10.1007/s10545-005-0114-x

By:

Struys, E.;
Verhoeven, N.;
Brink, H.;
Wickenhagen, W.;
Gibson, K.;
Jakobs, C.

Publication type:

Article

Social outcome in treated individuals with inherited metabolic disorders: UK study.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 825, doi. 10.1007/s10545-005-0159-x

By:

Bhat, M.;
Haase, C.;
Lee, P.

Publication type:

Article

A novel assay for the prenatal diagnosis of Sjögren–Larsson syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 965, doi. 10.1007/s10545-005-0115-9

By:

Brink, D.;
Miert, J.;
Wanders, R.

Publication type:

Article

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

Published in:

2005

By:

Sykut-Cegielska, J.;
Jurecka, A.;
Taybert, J.;
Gradowska, W.;
Pajdowska, M.;
Pronicka, E.

Publication type:

Report

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

Published in:

2005

By:

Jackson, M.;
Clayton, P.;
Grunewald, S.;
Keir, G.;
Mills, K.;
Mills, P.;
Winchester, B.;
Worthington, V.;
Young, E.

Publication type:

Report

Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.

Published in:

2005

By:

Boneh, A.;
Baumgartner, M.;
Hayman, M.;
Peters, H.

Publication type:

Report

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1027, doi. 10.1007/s10545-005-0020-2

By:

Petry, M.;
Nonemacher, K.;
Sebben, J.;
Schwartz, I.;
Azevedo, A.;
Burin, M.;
Rezende, A.;
Kim, C.;
Giugliani, R.;
Leistner-Segal, S.

Publication type:

Article

Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1035, doi. 10.1007/s10545-005-0070-5

By:

Camassola, M.;
Braga, L.;
Delgado-Cañedo, A.;
Dalberto, T.;
Matte, U.;
Burin, M.;
Giugliani, R.;
Nardi, N.

Publication type:

Article

Genetic variants of transferrin in the diagnosis of protein hypoglycosylation.

Published in:

2005

By:

Albahri, Z.;
Marklová, E.;
Vaníček, H.;
Minxová, L.;
Dédek, P.;
Skálová, S.

Publication type:

Report

Globoid cell leukodystrophy (Krabbe disease): Normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1005, doi. 10.1007/s10545-005-4138-z

By:

Raghavan, S.;
Zeng, B.;
Torres, P.;
Pastores, G.;
Kolodny, E.;
Kurtzberg, J.;
Krivit, W.

Publication type:

Article

Mutation detection in four candidate genes ( OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1091, doi. 10.1007/s10545-005-4483-y

By:

Coenen, M.;
Smeitink, J.;
Smeets, R.;
Trijbels, F.;
Heuvel, L.

Publication type:

Article

State regulation and response inhibition in children with ADHD and children with early- and continuously treated phenylketonuria: An event-related potential comparison.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 831, doi. 10.1007/s10545-005-0110-1

By:

Wiersema, J.;
Meere, J.;
Roeyers, H.

Publication type:

Article

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.

Published in:

2005

By:

Rolland, M.;
Cuisset, L.;
Bozec, J.;
Guffon, N.;
VianeySaban, C.

Publication type:

Report

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 877, doi. 10.1007/s10545-005-0081-2

By:

Al-Sayed, M.;
AlAhmed, S.;
Alsmadi, O.;
Khalil, H.;
Rashed, M.;
Imtiaz, F.;
Meyer, B.

Publication type:

Article

The knowledge gap in expanded newborn screening: Survey results from paediatricians in Massachusetts.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 819, doi. 10.1007/s10545-005-0135-5

By:

Gennaccaro, M.;
Waisbren, S.;
Marsden, D.

Publication type:

Article

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1065, doi. 10.1007/s10545-005-0125-7

By:

Voer, G.;
Bent, P.;
Rodrigues, A.;
Ommen, G.-J.;
Peters, D.;
Taschner, P.

Publication type:

Article

Increased HVA detected on organic acid analysis in a patient with Costello syndrome.

Published in:

2005

By:

Bowron, A.;
Scott, J.;
Brewer, C.;
Weir, P.

Publication type:

Report