Works matching IS 01418955 AND DT 2004 AND VI 27 AND IP 2

Results: 25

Glutathione synthetase deficiency associated with antenatal cerebral bleeding.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 275, doi. 10.1023/B:BOLI.0000028844.84760.a1

By:

Brüggemann, L.;
Groenendaal, F.;
Ristoff, E.;
Larsson, A.;
Duran, M.;
van Lier, J.;
Dorland, L.;
Berger, R.;
de Koning, T.

Publication type:

Article

Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased CSF levels of leukotriene C<sub>4</sub> in a patient with glutathione synthetase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 297, doi. 10.1023/B:BOLI.0000028843.48467.cb

By:

Mayatepek, E.;
Meissner, T.;
Gröbe, H.

Publication type:

Article

Pro-oxidant and antioxidant factors in acute intermittent porphyria: Family studies.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 251, doi. 10.1023/B:BOLI.0000028795.84156.da

By:

Rocchi, E.;
Ventura, P.;
Ronzoni, A.;
Rosa, M.;
Gozzi, C.;
Marri, L.;
Casalgrandi, G.;
Cappellini, M.

Publication type:

Article

Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 291, doi. 10.1023/B:BOLI.0000028842.15981.6e

By:

Wolf, N.;
Haas, D.;
Hoffmann, G.;
Jakobs, C.;
Salomons, G.;
Wevers, R.;
Engelke, U.;
Rating, D.

Publication type:

Article

CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 229, doi. 10.1023/B:BOLI.0000028794.04349.91

By:

Jardim, L.;
Vedolin, L.;
Schwartz, I.;
Burin, M.;
Cecchin, C.;
Kalakun, L.;
Matte, U.;
Aesse, F.;
Pitta-Pinheiro, C.;
Marconato, J.;
Giugliani, R.

Publication type:

Article

The Resource Mothers Study of Maternal Phenylketonuria: Preliminary findings.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 145, doi. 10.1023/B:BOLI.0000028785.20901.d9

By:

Rohr, F.;
Munier, A.;
Sullivan, D.;
Bailey, I.;
Gennaccaro, M.;
Levy, H.;
Brereton, H.;
Gleason, S.;
Goss, B.;
Lesperance, E.;
Moseley, K.;
Singh, R.;
Tonyes, L.;
Vespa, H.;
Waisbren, S.

Publication type:

Article

A new, low-volume protein substitute for teenagers and adults with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 127, doi. 10.1023/B:BOLI.0000028784.11080.9b

By:

MacDonald, A.;
Lilburn, M.;
Cochrane, B.;
Davies, P.;
Daly, A.;
Asplin, D.;
Hall, S.;
Cousins, A.;
Chakrapani, A.;
Robinson, P.;
Lee, P.

Publication type:

Article

A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 279, doi. 10.1023/B:BOLI.0000028841.00833.f4

By:

Peduto, A.;
Spada, M.;
Alluto, A.;
Dolcetta, M.;
Ponzone, A.;
Santer, R.

Publication type:

Article

Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 285, doi. 10.1023/B:BOLI.0000028840.97261.c6

By:

Rohininath, T.;
Costello, D.;
Lynch, T.;
Monavari, A.;
Tuchman, M.;
Treacy, E.

Publication type:

Article

Maternal histidinaemia: Pregnancies and offspring outcomes.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 197, doi. 10.1023/B:BOLI.0000028783.35805.dd

By:

Levy, H.;
Yu, J.;
Waisbren, S.

Publication type:

Article

The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 294, doi. 10.1023/B:BOLI.0000028839.57386.88

By:

Spiekerkoetter, U.;
Khuchua, Z.;
Yue, Z.;
Strauss, A.

Publication type:

Article

Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 157, doi. 10.1023/B:BOLI.0000028782.39513.20

By:

Johnston, J.;
Lichter-Konecki, U.;
Wilson, E.;
Cobb, B.;
Evans, B.;
Schnur, R.;
Wong, L

Publication type:

Article

Executive function impairment in early-treated PKU subjects with normal mental development.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 115, doi. 10.1023/B:BOLI.0000028781.94251.1f

By:

Leuzzi, V.;
Pansini, M.;
Sechi, E.;
Chiarotti, F.;
Carducci, Cl.;
Levi, G.;
Antonozzi, I.

Publication type:

Article

Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 267, doi. 10.1023/B:BOLI.0000028780.01670.61

By:

Galron, D.;
Birk, O.;
Kazanovitz, A.;
Moses, S.;
Hershkovitz, E.

Publication type:

Article

Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: A twenty-six-year follow-up.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 187, doi. 10.1023/B:BOLI.0000028779.29966.05

By:

Santinelli, R.;
Costagliola, C.;
Tolone, C.;
D'Aloia, A.;
D'Avanzo, A.;
Prisco, F.;
Perrone, L.;
del Giudice, E.

Publication type:

Article

Living-donor liver transplantation for propionic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 205, doi. 10.1023/B:BOLI.0000028778.54210.13

By:

Yorifuji, T.;
Kawai, M.;
Mamada, M.;
Kurokawa, K.;
Egawa, H.;
Shigematsu, Y.;
Kohno, Y.;
Tanaka, K.;
Nakahata, T.

Publication type:

Article

Juvenile Sandhoff disease—Nine new cases and a review of the literature.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 241, doi. 10.1023/B:BOLI.0000028777.38551.5a

By:

Hendriksz, C.;
Corry, P.;
Wraith, J.;
Besley, G.;
Cooper, A.;
Ferrie, C.

Publication type:

Article

A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 277, doi. 10.1023/B:BOLI.0000028838.24871.8e

By:

Sumi, S.;
Ueta, A.;
Maeda, T.;
Ito, T.;
Ohkubo, Y.;
Togari, H.

Publication type:

Article

Intrastriatal malonate administration induces convulsive behaviour in rats.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 211, doi. 10.1023/B:BOLI.0000028769.15474.7e

By:

Fleck, J.;
Ribeiro, M.;
Schneider, C.;
Sinhorin, V.;
Rubin, M.;
Mello, C.

Publication type:

Article

Carrier screening for Canavan disease in Australia.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 289, doi. 10.1023/B:BOLI.0000028837.63607.f0

By:

Howell, V.;
Proos, A.;
LaRue, D.;
Jensen, C.;
Beach, F.;
Burnett, L.

Publication type:

Article

Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 165, doi. 10.1023/B:BOLI.0000028728.93113.4d

By:

Hyland, K.;
Kasim, S.;
Egami, K.;
Arnold, L.;
Jinnah, H.

Publication type:

Article

How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 179, doi. 10.1023/B:BOLI.0000028727.77454.bd

By:

Grünewald, S.;
Fairbanks, L.;
Genet, S.;
Cranston, T.;
Hüsing, J.;
Leonard, J.;
Champion, M.

Publication type:

Article

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 281, doi. 10.1023/B:BOLI.0000028836.91788.30

By:

Roeleveld-Versteegh, A.;
Braun, K.;
Smeitink, J.;
Dorland, L.;
de Koning, T.

Publication type:

Article

Clinical benefit in Fabry patients given enzyme replacement therapy—A case series.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 221, doi. 10.1023/B:BOLI.0000028726.11177.8b

By:

Guffon, N.;
Fouilhoux, A.

Publication type:

Article

Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 137, doi. 10.1023/B:BOLI.0000028725.37345.62

By:

Arnold, G.;
Vladutiu, C.;
Orlowski, C.;
Blakely, E.;
DeLuca, J.

Publication type:

Article