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

Results: 10

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
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
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