Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 8

Results: 15

Liver transplantation in a case of argininaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 885, doi. 10.1023/A:1013960712516

By:

Santos Silva, E.;
Martins, E.;
Cardoso, M.;
Barbot, C.;
Vilarinho, L.;
Medina, M.

Publication type:

Article

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 883, doi. 10.1023/A:1013908728445

By:

Vilarinho, L.;
Barbot, C.;
Carrozzo, R.;
Calado, E.;
Tessa, A.;
Dionisi-Vici, C.;
Guimarães, A.;
Santorelli, F.

Publication type:

Article

Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 881, doi. 10.1023/A:1013956611607

By:

Terzioglu, M.;
Emre, S.;
Özen, H.;
Saltık, İ.;
Koçak, N.;
Ciliv, G.;
Yüce, A.;
Gürakan, F.

Publication type:

Article

Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 877, doi. 10.1023/A:1013904627537

By:

Evangeliou, A.;
Lionis, C.;
Michailidou, H.;
Spilioti, M.;
Kanitsakis, A.;
Nikitakis, P.;
Drakonakis, N.;
Giannakopoulou, C.;
Sbyrakis, S.;
Sewell, A.;
Boehles, H.;
Smeitink, J.;
Wevers, R.

Publication type:

Article

Familial hypomagnesaemia with secondary hypocalcaemia: A new case that indicates autosomal recessive inheritance.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 875, doi. 10.1023/A:1013952510698

By:

Meyer, P.;
Boettger, M.

Publication type:

Article

Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 873, doi. 10.1023/A:1013900526628

By:

Kimura, T.;
Ikeda, H.;
Kato, M.;
Ito, A.;
Okubo, M.;
Hayasaka, K.

Publication type:

Article

Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: Response to riboflavin.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 870, doi. 10.1023/A:1013948409790

By:

Yoon, H-R.;
Hahn, S.;
Ahn, Y.;
Jang, S.;
Shin, Y.;
Lee, E.;
Ryu, K.;
Eun, B.;
Rinaldo, P.;
Yamaguchi, S.

Publication type:

Article

Continuous glucose monitoring in children with glycogen storage disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 863, doi. 10.1023/A:1013996325720

By:

Hershkovitz, E.;
Rachmel, A.;
Ben-Zaken, H.;
Phillip, M.

Publication type:

Article

Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 858, doi. 10.1023/A:1013944308881

By:

Böhles, H.;
Sewell, A.;
Gebhardt, B.;
Reinecke-Lüthge, A.;
Klöppel, G.;
Marquardt, T.

Publication type:

Article

Decreasing serum VLCFA levels in ageing X-ALD female carriers.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 851, doi. 10.1023/A:1013992224811

By:

Stradomska, T.;
Tylki-Szymańska, A.

Publication type:

Article

Prolidase deficiency diagnosed by <sup>1</sup>H NMR spectroscopy of urine.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 843, doi. 10.1023/A:1013940207973

By:

Moolenaar, S.;
Engelke, U.;
Abeling, N.;
Mandel, H.;
Duran, M.;
Wevers, R.

Publication type:

Article

Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 833, doi. 10.1023/A:1013988123902

By:

Tonetti, C.;
Amiel, J.;
Munnich, A.;
Zittoun, J.

Publication type:

Article

Outcome of tyrosinaemia type III.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 824, doi. 10.1023/A:1013936107064

By:

Ellaway, C.;
Holme, E.;
Standing, S.;
Preece, M.;
Green, A.;
Ploechl, E.;
Ugarte, M.;
Trefz, F.;
Leonard, J.

Publication type:

Article

Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 815, doi. 10.1023/A:1013984022994

By:

Chien, Y.-H.;
Chiang, S.-C.;
Huang, A.;
Lin, J.-M.;
Chiu, Y.-N.;
Chou, S.-P.;
Chu, S.-Y.;
Wang, T.-R.;
Hwu, W.-L.

Publication type:

Article

Modelling the phenylalanine blood level response during treatment of phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 805, doi. 10.1023/A:1013946006155

By:

Langenbeck, U.;
Zschocke, J.;
Wendel, U.;
Hönig, V.

Publication type:

Article