Works matching IS 01418955 AND DT 2008 AND VI 31

Results: 133

Adalimumab for the treatment of Crohn‐like colitis and enteritis in glycogen storage disease type Ib.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 505, doi. 10.1007/s10545-007-0774-9

By:

Davis, M. K.;
Rufo, P. A.;
Polyak, S. F.;
Weinstein, D. A.

Publication type:

Article

Incidence of 3‐hydroxy‐3‐methylglutaryl‐coenzyme A lyase (HL) deficiency in Brazil, South America.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 511, doi. 10.1007/s10545-007-0756-y

By:

Vargas, C. R.;
Sitta, A.;
Schmitt, G.;
Ferreira, G. C.;
Cardoso, M. L.;
Coelho, D.;
Gibson, K. M.;
Wajner, M.

Publication type:

Article

Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA<sup>(Leu)</sup> gene (m.3243A>G).

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 497, doi. 10.1007/s10545-007-0735-3

By:

Sproule, D. M.;
Dyme, J.;
Coku, J.;
de Vinck, D.;
Rosenzweig, E.;
Chung, W. K.;
De Vivo, D. C.

Publication type:

Article

Amnionless (AMN) mutations in Imerslund–Gräsbeck syndrome may be associated with disturbed vitamin B<sub>12</sub> transport into the CNS.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 493, doi. 10.1007/s10545-007-0760-2

By:

Luder, A. S.;
Tanner, S. M.;
de la Chapelle, A.;
Walter, J. H.

Publication type:

Article

Myopathy in Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 489, doi. 10.1007/s10545-007-0795-4

By:

Tsai, Li‐Kai;
Chien, Yin‐Hsiu;
Yang, Chih‐Chao;
Hwu, Wuh‐Liang

Publication type:

Article

Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 483, doi. 10.1007/s10545-007-0740-6

By:

Kobayashi, M.;
Ohashi, T.;
Sakuma, M.;
Ida, H.;
Eto, Y.

Publication type:

Article

Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 477, doi. 10.1007/s10545-007-0791-8

By:

Vatanavicharn, N.;
Pressman, B. D.;
Wilcox, W. R.

Publication type:

Article

Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 469, doi. 10.1007/s10545-007-0629-4

By:

van der Crabben, S. N.;
Wijburg, F. A.;
Ackermans, M. T.;
Sauerwein, H. P.

Publication type:

Article

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 461, doi. 10.1007/s10545-008-1049-9

By:

Anderson, S.;
Chung, W.;
Frezzo, J.;
Papp, J.;
Ekstein, J.;
DiMauro, S.;
Rubin, B.

Publication type:

Article

N-Carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.

Published in:

2008

By:

Jones, S.;
Reed, C.;
Vijay, S.;
Walter, J.;
Morris, A.

Publication type:

Report

Functional antibody deficiency in a patient with type I Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 267, doi. 10.1007/s10545-008-0824-y

By:

Jariwala, S.;
Fodeman, J.;
Hudes, G.;
Ahuja, K.;
Rosenstreich, D.

Publication type:

Article

Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 255, doi. 10.1007/s10545-008-0819-8

By:

Eminoglu, T.;
Tumer, L.;
Okur, I.;
Olgunturk, R.;
Hasanoglu, A.;
Gonul, I.;
Dalgic, B.

Publication type:

Article

L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 275, doi. 10.1007/s10545-008-0855-4

By:

Sass, J.;
Jobard, F.;
Topçu, M.;
Mahfoud, A.;
Werlé, E.;
Cure, S.;
Al-Sannaa, N.;
Alshahwan, S.;
Bataillard, M.;
Cimbalistiene, L.;
Grolik, C.;
Kemmerich, V.;
Omran, H.;
Sztriha, L.;
Tabache, M.;
Fischer, J.

Publication type:

Article

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 233, doi. 10.1007/s10545-008-0811-3

By:

Couce, M.;
Bóveda, M.;
Castiñeiras, D.;
Corrales, F.;
Mora, M.;
Fraga, J.;
Mudd, S.

Publication type:

Article

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 193, doi. 10.1007/s10545-007-0788-3

By:

Concolino, D.;
Muzzi, G.;
Rapsomaniki, M.;
Moricca, M.;
Pascale, M.;
Strisciuglio, P.

Publication type:

Article

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 299, doi. 10.1007/s10545-008-0871-4

By:

Vries, M.;
Rodenburg, R.;
Morava, E.;
Lammens, M.;
Heuvel, L.;
Korenke, G.;
Smeitink, J.

Publication type:

Article

Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 261, doi. 10.1007/s10545-008-0820-2

By:

Joshi, P.;
Gläser, D.;
Schmidt, S.;
Vorgerd, M.;
Winterholler, M.;
Eger, K.;
Zierz, S.;
Deschauer, M.

Publication type:

Article

Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 293, doi. 10.1007/s10545-008-0866-1

By:

Søvik, O.;
Njølstad, P.;
Jellum, E.;
Molven, A.

Publication type:

Article

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 223, doi. 10.1007/s10545-008-0807-z

By:

Schlump, J.-U.;
Perot, C.;
Ketteler, K.;
Schiff, M.;
Mayatepek, E.;
Wendel, U.;
Spiekerkoetter, U.

Publication type:

Article

Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 227, doi. 10.1007/s10545-008-0810-4

By:

Melis, D.;
Balivo, F.;
Casa, R.;
Romano, A.;
Taurisano, R.;
Capaldo, B.;
Riccardi, G.;
Monsurrò, M.;
Parenti, G.;
Andria, G.

Publication type:

Article

Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 213, doi. 10.1007/s10545-008-0775-3

By:

Gokmen Ozel, H.;
Kucukkasap, T.;
Koksal, G.;
Kalkanoglu Sivri, H.;
Dursun, A.;
Tokatli, A.;
Coskun, T.

Publication type:

Article

Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.

Published in:

2008

By:

Keeratichamroen, S.;
Ketudat Cairns, J.;
Wattanasirichaigoon, D.;
Wasant, P.;
Ngiwsara, L.;
Suwannarat, P.;
Pangkanon, S.;
Kuptanon, J.;
Tanpaiboon, P.;
Rujirawat, T.;
Liammongkolkul, S.;
Svasti, J.

Publication type:

Report

d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.

Published in:

2008

By:

Jurecka, A.;
Tylki-Szymanska, A.;
Zikanova, M.;
Krijt, J.;
Kmoch, S.

Publication type:

Report

Phenotypic spectrum of fucosidosis in Tunisia.

Published in:

2008

By:

Turkia, H.;
Tebib, N.;
Azzouz, H.;
Abdelmoula, M.;
Bouguila, J.;
Sanhaji, H.;
Miladi, N.;
Maire, I.;
Caillaud, C.;
Kaabachi, N.;
Ben Dridi, M.

Publication type:

Report

Glycogen storage disease type I in Tunisia: An epidemiological analysis.

Published in:

2008

By:

Chehida, A.;
Tebib, N.;
Cherif, W.;
Turkia, H.;
Abdelmoula, S.;
Azzouz, H.;
Ben Dridi, M.

Publication type:

Report

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Published in:

2008

By:

Rimella-Le-Huu, A.;
Henry, H.;
Kern, I.;
Hanquinet, S.;
Roulet-Perez, E.;
Newman, C.;
Superti-Furga, A.;
Bonafé, L.;
Ballhausen, D.

Publication type:

Report

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.

Published in:

2008

By:

Shirwalkar, H.;
Patel, Z.;
Magre, J.;
Hilbert, P.;
Maldergem, L.;
Mukhopadhyay, R.;
Maitra, A.

Publication type:

Report

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.

Published in:

2008

By:

Schneider-Yin, X.;
Mamet, R.;
Minder, E.;
Schoenfeld, N.

Publication type:

Report

l-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.

Published in:

2008

By:

Larnaout, A.;
Amouri, R.;
Kefi, M.;
Hentati, F.

Publication type:

Report

Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.

Published in:

2008

By:

Harty, S.;
King, M.;
McCoy, B.;
Costigan, D.;
Treacy, E.

Publication type:

Report

Detection of treatable neonatal liver disease by expanded newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 271, doi. 10.1007/s10545-008-0842-9

By:

Mackay, R.;
Bratkovic, D.;
Couper, R.;
Davidson, G.;
Fahy, R.;
Fletcher, J.;
Ranieri, E.

Publication type:

Article

Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 339, doi. 10.1007/s10545-008-0907-9

By:

Porta, F.;
Roato, I.;
Mussa, A.;
Repici, M.;
Gorassini, E.;
Spada, M.;
Ferracini, R.

Publication type:

Article

A Brazilian galactosialidosis patient given renal transplantation: A case report.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 205, doi. 10.1007/s10545-008-0730-3

By:

Kiss, A.;
Zen, P.;
Bittencourt, V.;
Paskulin, G.;
Giugliani, R.;
d'Azzo, A.;
Schwartz, I.

Publication type:

Article

Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 369, doi. 10.1007/s10545-008-0930-x

By:

Wang, R.;
Abe, J.;
Cohen, A.;
Wilcox, W.

Publication type:

Article

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: A case report in Brazil.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 357, doi. 10.1007/s10545-008-0923-9

By:

Santos, M.;
Raskin, S.;
Telles, D.;
Löhr Junior, A.;
Liberalesso, P.;
Vieira, S.;
Cordeiro, M.

Publication type:

Article

Association between polymorphisms of endothelial nitric oxide synthase gene ( NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.

Published in:

2008

By:

Rohard, I.;
Schaefer, E.;
Kampmann, C.;
Beck, M.;
Gal, A.

Publication type:

Report

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.

Published in:

2008

By:

de Sain-van der Velden, M.;
Verrips, A.;
Prinsen, B.;
de Barse, M.;
Berger, R.;
Visser, G.

Publication type:

Report

Effect of single-nucleotide polymorphisms of the 5′ untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

Published in:

2008

By:

Oliveira, J.;
Ferreira, S.;
Barceló, J.;
Gaspar, P.;
Carvalho, F.;
Sá Miranda, M.;
Månsson, J.-E.

Publication type:

Report

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 395, doi. 10.1007/s10545-008-0965-z

By:

Marca, G.;
Malvagia, S.;
Casetta, B.;
Pasquini, E.;
Donati, M.;
Zammarchi, E.

Publication type:

Article

Transcobalamin (TC) deficiency-Potential cause of bone marrow failure in childhood.

Published in:

2008

By:

Prasad, C.;
Rosenblatt, D.;
Corley, K.;
Cairney, A.;
Rupar, C.

Publication type:

Report

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

Published in:

2008

By:

Velázquez-Aragón, J.;
Alcántara-Ortigoza, M.;
Vela-Amieva, M.;
Monroy, S.;
Martínez-Cruz, V.;
Todd-Quiñones, C.;
González-del Angel, A.

Publication type:

Report

Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate.

Published in:

2008

By:

Mutoh, K.;
Kurokawa, K.;
Kobayashi, K.;
Saheki, T.

Publication type:

Report

The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression-Evidence from a family study.

Published in:

2008

By:

Oliveira, J.;
Ferreira, S.;
Reguenga, C.;
Carvalho, F.;
Månsson, J.-E.

Publication type:

Report

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.

Published in:

2008

By:

Bik-Multanowski, M.;
Didycz, B.;
Mozrzymas, R.;
Nowacka, M.;
Kaluzny, L.;
Cichy, W.;
Schneiberg, B.;
Amilkiewicz, J.;
Bilar, A.;
Gizewska, M.;
Lange, A.;
Starostecka, E.;
Chrobot, A.;
Wojcicka-Bartlomiejczyk, B.;
Milanowski, A.

Publication type:

Report

Costeff optic atrophy syndrome: New clinical case and novel molecular findings.

Published in:

2008

By:

Ho, G.;
Walter, J.;
Christodoulou, J.

Publication type:

Report

Maple syrup urine disease (MSUD)-Clinical profile of 47 Filipino patients.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 281, doi. 10.1007/s10545-008-0859-0

By:

Lee, J.;
Chiong, M.;
Estrada, S.;
Cutiongco-De la Paz, E.;
Silao, C.;
Padilla, C.

Publication type:

Article

International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 441, doi. 10.1007/s10545-008-1008-5

By:

Khneisser, I.;
Adib, S.;
Megarbane, A.;
Lukacs, Z.

Publication type:

Article

Hypoxanthine-guanine phosphoribosylotransferase deficiency-The spectrum of Polish mutations.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 447, doi. 10.1007/s10545-008-1013-8

By:

Jurecka, A.;
Popowska, E.;
Tylki-Szymanska, A.;
Kubalska, J.;
Ciara, E.;
Krumina, Z.;
Sykut-Cegielska, J.;
Pronicka, E.

Publication type:

Article

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 323, doi. 10.1007/s10545-008-0903-0

By:

Scholl-Bürgi, S.;
Baumgartner Sigl, S.;
Häberle, J.;
Haberlandt, E.;
Rostásy, K.;
Ertl, C.;
Eichinger-Öttl, U.;
Heinz-Erian, P.;
Karall, D.

Publication type:

Article

Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, p. 437, doi. 10.1007/s10545-008-1004-9

By:

Calvo, P.;
Pagliardini, S.;
Baldi, M.;
Pucci, A.;
Sturiale, L.;
Garozzo, D.;
Vinciguerra, T.;
Barbera, C.;
Jaeken, J.

Publication type:

Article