Works matching IS 01418955 AND DT 2009 AND VI 32

Results: 138

Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 11, doi. 10.1007/s10545-008-1027-2

By:

Decarlis, S.;
Agostoni, C.;
Ferrante, F.;
Scarlino, S.;
Riva, E.;
Giovannini, M.

Publication type:

Article

Miglustat therapy in juvenile Sandhoff disease.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 289, doi. 10.1007/s10545-009-1224-7

By:

Tallaksen, C.;
Berg, J.

Publication type:

Article

Chitotriosidase plasma activity in nephropathic cystinosis.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 157, doi. 10.1007/s10545-009-1118-8

By:

Xaidara, A.;
Karavitakis, E.;
Kosma, K.;
Emma, F.;
Dimitriou, E.;
Michelakakis, H.

Publication type:

Article

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 349, doi. 10.1007/s10545-009-9014-9

By:

Ferrer-Bolufer, Irene;
Dalmau, Jaime;
Quiroga, Ramiro;
Oltra, Silvestre;
Orellana, Carmen;
Monfort, Sandra;
Roselló, Mónica;
Osa, Alberto;
Martinez, Francisco

Publication type:

Article

Creatine transporter deficiency in two adult patients with static encephalopathy.

Published in:

2009

By:

Sempere, A.;
Fons, C.;
Arias, A.;
Rodríguez-Pombo, P.;
Colomer, R.;
Merinero, B.;
Alcaide, P.;
Capdevila, A.;
Ribes, A.;
Artuch, R.;
Campistol, J.

Publication type:

Report

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 345, doi. 10.1007/s10545-009-9010-0

By:

Dursun, Ali;
Gucer, Safak;
Ebberink, M.;
Yigit, Sule;
Wanders, R.;
Waterham, H.

Publication type:

Article

A new case of ALG8 deficiency (CDG Ih).

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 259, doi. 10.1007/s10545-009-1203-z

By:

Vesela, K.;
Honzik, T.;
Hansikova, H.;
Haeuptle, M.;
Semberova, J.;
Stranak, Z.;
Hennet, T.;
Zeman, J.

Publication type:

Article

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 169, doi. 10.1007/s10545-009-1135-7

By:

Sarafoglou, K.;
Bentler, K.;
Gaviglio, A.;
Redlinger-Grosse, K.;
Anderson, C.;
McCann, M.;
Bloom, B.;
Babovic-Vuksanovic, D.;
Gavrilov, D.;
Berry, S.

Publication type:

Article

Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy.

Published in:

2009

By:

Yano, S.;
Moseley, K.;
Pavlova, Z.

Publication type:

Report

False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 355, doi. 10.1007/s10545-009-9017-6

By:

Hennermann, Julia;
Roloff, Sylvia;
Gellermann, Jutta;
Grüters, Annette;
Klein, Jeannette

Publication type:

Article

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 137, doi. 10.1007/s10545-009-1108-x

By:

Clayton, P.;
Grunewald, S.

Publication type:

Article

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 221, doi. 10.1007/s10545-009-1173-1

By:

Walterfang, M.;
Fietz, M.;
Abel, L.;
Bowman, E.;
Mocellin, R.;
Velakoulis, D.

Publication type:

Article

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 201, doi. 10.1007/s10545-009-1154-4

By:

Rosa, G.;
Malaspina, P.;
Blasi, P.;
Dionisi-Vici, C.;
Rizzo, C.;
Tortorella, G.;
Crutchfield, S.;
Gibson, K.

Publication type:

Article

RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 335, doi. 10.1007/s10545-009-1297-3

By:

Jaeken, J.;
Vleugels, W.;
Régal, L.;
Corchia, C.;
Goemans, N.;
Haeuptle, M.;
Foulquier, F.;
Hennet, T.;
Matthijs, G.;
Dionisi-Vici, C.

Publication type:

Article

Orotic aciduria and uridine monophosphate synthase: A reappraisal.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 227, doi. 10.1007/s10545-009-1176-y

By:

Bailey, C.

Publication type:

Article

Early-onset hyperargininaemia: A severe disorder?

Published in:

2009

By:

Schiff, M.;
Benoist, J.-F.;
Cardoso, M.;
Elmaleh-Bergès, M.;
Forey, P.;
Santiago, J.;
Ogier de Baulny, H.

Publication type:

Report

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 179, doi. 10.1007/s10545-009-1141-9

By:

Filippi, L.;
Gozzini, E.;
Cavicchi, C.;
Morrone, A.;
Fiorini, P.;
Donzelli, G.;
Malvagia, S.;
la Marca, G.

Publication type:

Article

Cognitive and social profiles in two patients with cobalamin C disease.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 327, doi. 10.1007/s10545-009-1284-8

By:

Beauchamp, M.;
Anderson, V.;
Boneh, A.

Publication type:

Article

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 103, doi. 10.1007/s10545-009-1088-x

By:

Dagli, A.;
Zori, R.;
McCune, H.;
Ivsic, T.;
Maisenbacher, M.;
Weinstein, D.

Publication type:

Article

Four successful pregnancies in a patient with mucopolysaccharidosis type I treated by allogeneic bone marrow transplantation.

Published in:

2009

By:

Remérand, G.;
Merlin, E.;
Froissart, R.;
Brugnon, F.;
Kanold, J.;
Janny, L.;
Deméocq, F.

Publication type:

Report

Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 79, doi. 10.1007/s10545-009-1062-7

By:

Nyhan, W.;
Willis, M.;
Barshop, B.;
Gangoiti, J.

Publication type:

Article

Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 41, doi. 10.1007/s10545-009-1031-1

By:

Thong, M.;
Fietz, M.;
Nicholls, C.;
Lee, M.;
Asma, O.

Publication type:

Article

Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 279, doi. 10.1007/s10545-009-1221-x

By:

Vatanavicharn, N.;
Kuptanon, C.;
Liammongkolkul, S.;
Liu, T.-T.;
Hsiao, K.-J.;
Ratanarak, P.;
Blau, N.;
Wasant, P.

Publication type:

Article

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 235, doi. 10.1007/s10545-009-1179-8

By:

Ostergaard, E.;
Moller, L.;
Kalkanoglu-Sivri, H.;
Dursun, A.;
Kibaek, M.;
Thelle, T.;
Christensen, E.;
Duno, M.;
Wibrand, F.

Publication type:

Article

Diagnosis of glutathione synthetase deficiency in newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 269, doi. 10.1007/s10545-009-1213-x

By:

Simon, E.;
Vogel, M.;
Fingerhut, R.;
Ristoff, E.;
Mayatepek, E.;
Spiekerkötter, U.

Publication type:

Article

Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 241, doi. 10.1007/s10545-009-1180-2

By:

Shanti, B.;
Silink, M.;
Bhattacharya, K.;
Howard, N.;
Carpenter, K.;
Fietz, M.;
Clayton, P.;
Christodoulou, J.

Publication type:

Article

A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 123, doi. 10.1007/s10545-009-1101-4

By:

Bachmann-Gagescu, R.;
Merritt, J.;
Hahn, S.

Publication type:

Article

Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 283, doi. 10.1007/s10545-009-1222-9

By:

Ghiasvand, N.;
Aledavood, A.;
Ghiasvand, R.;
Seyedin Borojeny, F.;
Seyed, S.;
Miner, W.;
Saeb Taheri, G.

Publication type:

Article

IgM monoclonal component associated with type I Gaucher disease resolved after enzyme replacement therapy: A case report.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 265, doi. 10.1007/s10545-009-1207-8

By:

Martinez-Redondo, C.;
Ortuño, F.;
Lozano, M.;
Jerez, A.;
del Mar Osma, M.;
Giraldo, P.;
Vicente, V.

Publication type:

Article

Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 295, doi. 10.1007/s10545-009-1238-1

By:

Ye, J.;
Wang, T.;
Han, L.;
Qiu, W.;
Zhang, H.;
Zhang, Y.;
Gao, X.;
Wang, Y.;
Gu, X.

Publication type:

Article

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 151, doi. 10.1007/s10545-009-1116-x

By:

Hutchin, T.;
Preece, M.;
Hendriksz, C.;
Chakrapani, A.;
McClelland, V.;
Okumura, F.;
Song, Y.-Z.;
Iijima, M.;
Kobayashi, K.;
Saheki, T.;
McKiernan, P.;
Baumann, U.

Publication type:

Article

Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 207, doi. 10.1007/s10545-009-1167-z

By:

Beauchamp, M.;
Boneh, A.;
Anderson, V.

Publication type:

Article

Unusual presentation of propionic acidaemia as isolated cardiomyopathy.

Published in:

2009

By:

Lee, T.;
Addonizio, L.;
Barshop, B.;
Chung, W.

Publication type:

Report

Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 1, doi. 10.1007/s10545-008-0910-1

By:

Kohlschütter, B.;
Ellerbrok, M.;
Merkel, M.;
Tchirikov, M.;
Zschocke, J.;
Santer, R.;
Ullrich, K.

Publication type:

Article

Maternal tetrahydrobiopterin deficiency: The course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 83, doi. 10.1007/s10545-009-1073-4

By:

Giżewska, M.;
Hnatyszyn, G.;
Sagan, L.;
Cyryłowski, L.;
Żekanowski, C.;
Modrzejewska, M.;
Nestorowicz, B.;
Kubalska, J.;
Walczak, M.

Publication type:

Article

Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 303, doi. 10.1007/s10545-009-1240-7

By:

Chaabene-Masmoudi, A.;
Mesrati, F.;
Zittoun, J.;
Landrieu, P.

Publication type:

Article

Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure.

Published in:

2009

By:

Mizuguchi, K.;
Hoshino, H.;
Nagasawa, T.;
Kubota, M.

Publication type:

Report

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 49, doi. 10.1007/s10545-009-1048-5

By:

Reimão, S.;
Morgado, C.;
Almeida, I.;
Silva, M.;
Real, H.;
Campos, J.

Publication type:

Article

Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy.

Published in:

2009

By:

Wood, M.;
Cleary, M.;
Alderson, L.;
Vellodi, A.

Publication type:

Report

PDH Eβ deficiency with novel mutations in two patients with Leigh syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 339, doi. 10.1007/s10545-009-1343-1

By:

Quintana, E.;
Mayr, J.;
García Silva, M.;
Font, A.;
Tortoledo, M.;
Moliner, S.;
Ozaez, L.;
Lluch, M.;
Cabello, A.;
Ricoy, J.;
Koch, J.;
Ribes, A.;
Sperl, W.;
Briones, P.

Publication type:

Article

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 33, doi. 10.1007/s10545-009-1022-2

By:

Tammachote, R.;
Tongkobpetch, S.;
Desudchit, T.;
Suphapeetiporn, K.;
Shotelersuk, V.

Publication type:

Article

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 5, doi. 10.1007/s10545-008-1009-4

By:

Kusmierska, K.;
Jansen, E.;
Jakobs, C.;
Szymanska, K.;
Malunowicz, E.;
Meilei, D.;
Thony, B.;
Blau, N.;
Tryfon, J.;
Rokicki, D.;
Pronicka, E.;
Sykut-Cegielska, J.

Publication type:

Article

Galactosaemia in a Brazilian population: High incidence and cost-benefit analysis.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 141, doi. 10.1007/s10545-009-1112-1

By:

Camelo, J.;
Fernandes, M.;
Maciel, L.;
Scrideli, C.;
Santos, J.;
Camargo, A.;
Passador, C.;
Leite, P.;
Resende, D.;
Souza, L.;
Giugliani, R.;
Jorge, S.

Publication type:

Article

Experience with the treatment of argininosuccinic aciduria during pregnancy.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 191, doi. 10.1007/s10545-009-1145-5

By:

Reid, L.;
Perreault, É.;
Lafrance, G.;
Clarke, J.

Publication type:

Article

Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 27, doi. 10.1007/s10545-009-0993-3

By:

Bandsma, R.;
Smit, G.;
Reijngoud, D.-J.;
Kuipers, F.

Publication type:

Article

Substrate deprivation therapy in juvenile Sandhoff disease.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 307, doi. 10.1007/s10545-009-1261-2

By:

Wortmann, S.;
Lefeber, D.;
Dekomien, G.;
Willemsen, M.;
Wevers, R.;
Morava, E.

Publication type:

Article

Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening.

Published in:

2009

By:

Ficicioglu, C.;
Hussa, C.

Publication type:

Report

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 313, doi. 10.1007/s10545-009-1262-1

By:

Footitt, E.;
Karimova, A.;
Burch, M.;
Yayeh, T.;
Dupré, T.;
Vuillaumier-Barrot, S.;
Chantret, I.;
Moore, S.;
Seta, N.;
Grunewald, S.

Publication type:

Article

Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 107, doi. 10.1007/s10545-009-1091-2

By:

Sharpe, L.-R.;
Ancliff, P.;
Amrolia, P.;
Gilmour, K.;
Vellodi, A.

Publication type:

Article

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Published in:

2009

By:

Lamperti, C.;
Salani, S.;
Lucchiari, S.;
Bordoni, A.;
Ripolone, M.;
Fagiolari, G.;
Fruguglietti, M.;
Crugnola, V.;
Colombo, C.;
Cappellini, A.;
Prelle, A.;
Bresolin, N.;
Comi, G.;
Moggio, M.

Publication type:

Report