Works matching IS 01418955 AND DT 2003 AND VI 26 AND IP 5

Results: 10

Genotype–phenotype correlation in the 5703G>A mutation in the tRNA<sup>Asn</sup> gene of mitochondrial DNA.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 507, doi. 10.1023/A:1025133629685

By:

Vives-Bauza, C.;
Del Toro, M.;
Solano, A.;
Montoya, J.;
Andreu, A.;
Roig, M.

Publication type:

Article

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 505, doi. 10.1023/A:1025181512847

By:

Hargreaves, I.;
Heales, S.;
Briddon, A.;
Lee, P.;
Hanna, M.;
Land, J.

Publication type:

Article

Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T).

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 509, doi. 10.1023/A:1025129528777

By:

Linnebank, M.;
Junker, R.;
Nabavi, D.;
Linnebank, A.;
Koch, H.

Publication type:

Article

A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-α-D-glucosaminidase deficiency in Schipperke dogs.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 489, doi. 10.1023/A:1025177411938

By:

Ellinwood, N.;
Wang, P.;
Skeen, T.;
Sharp, N.;
Cesta, M.;
Decker, S.;
Edwards, N.;
Bublot, I.;
Thompson, J.;
Bush, W.;
Hardam, E.;
Haskins, M.;
Giger, U.

Publication type:

Article

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 481, doi. 10.1023/A:1025125427868

By:

Yano, S.;
Li, L.;
Le, T.;
Moseley, K.;
Guedalia, A.;
Lee, J.;
Gonzalez, I.;
Boles, R.

Publication type:

Article

Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 459, doi. 10.1023/A:1025173311030

By:

Schadewaldt, P.;
Killius, S.;
Kamalanathan, L.;
Hammen, H.-W.;
Straßburger, K.;
Wendel, U.

Publication type:

Article

Maternal methionine adenosyltransferase I/III deficiency: Reproductive outcomes in a woman with four pregnancies.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 443, doi. 10.1023/A:1025121326959

By:

Mudd, S.;
Tangerman, A.;
Stabler, S.;
Allen, R.;
Wagner, C.;
Zeisel, S.;
Levy, H.

Publication type:

Article

Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 433, doi. 10.1023/A:1025169210121

By:

Pospíšilová, E.;
Mrázová, L.;
Hrdá, J.;
Martincová, O.;
Zeman, J.

Publication type:

Article

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 423, doi. 10.1023/A:1025117226051

By:

Fukao, T.;
Zhang, G.-X.;
Sakura, N.;
Kubo, T.;
Yamaga, H.;
Hazama, A.;
Kohno, Y.;
Matsuo, N.;
Kondo, M.;
Yamaguchi, S.;
Shigematsu, Y.;
Kondo, N.

Publication type:

Article

Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 417, doi. 10.1023/A:1025106909213

By:

Burlina, A.;
Manara, R.;
Calderone, M.;
Catuogno, S.

Publication type:

Article