Works matching IS 01418955 AND DT 2001 AND VI 24

Results: 142

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

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

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

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

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

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

Prospects in the Treatment of Rare Diseases 2nd International Conference Trieste, Italy, 23–26 May 2001.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 751, doi. 10.1023/A:1012957824787

By:

Bembi, Bruno

Publication type:

Article

A family study of congenital malabsorption of folate.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 749, doi. 10.1023/A:1012905823879

By:

Jebnoun, S.;
Kacem, S.;
Mokrani, Ch.;
Chabchoub, A.;
Khrouf, N.;
Zittoun, J.

Publication type:

Article

Self-rated psychosocial consequences and quality of life in the acute porphyrias.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 733, doi. 10.1023/A:1012901607040

By:

Millward, L.;
Kelly, P.;
Deacon, A.;
Senior, V.;
Peters, T.

Publication type:

Article

Detection of β-ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 725, doi. 10.1023/A:1012997406132

By:

Van Kuilenburg, A.;
Van Lenthe, H.;
Assmann, B.;
Göhlich-Ratmann, G.;
Hoffmann, G.;
Bräutigam, C.;
Wevers, R.;
Van Gennip, A.

Publication type:

Article

Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 715, doi. 10.1023/A:1012993305223

By:

Whybra, C.;
Kampmann, Chr.;
Willers, I.;
Davies, J.;
Winchester, B.;
Kriegsmann, J.;
Brühl, K.;
Gal, A.;
Bunge, S.;
Beck, M.

Publication type:

Article

Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 681, doi. 10.1023/A:1012715110596

By:

Pela, I.;
Donati, M.;
Zammarchi, E.

Publication type:

Article

Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 696, doi. 10.1023/A:1012981019336

By:

Dotti, M.;
Rufa, A.;
Federico, A.

Publication type:

Article

Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 691, doi. 10.1023/A:1012995701589

By:

Wilson, C.;
Lee, P.;
Leonard, J.

Publication type:

Article

Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 685, doi. 10.1023/A:1012719211505

By:

Campos, Y.;
García, A.;
Eiris, J.;
Fuster, M.;
Rubio, J.;
Martín, M.;
del Hoyo, P.;
Pintos, E.;
Castro-Gago, M.;
Arenas, J.

Publication type:

Article

Thiamin-responsive maple syrup urine disease: Seizures after 7 years of satisfactory metabolic control.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 683, doi. 10.1023/A:1012767127434

By:

Delis, D.;
Michelakakis, H.;
Katsarou, E.;
Bartsocas, C.

Publication type:

Article

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 707, doi. 10.1023/A:1012937204315

By:

Pronicka, E.;
Piekutowska-Abramczuk, D.;
Popowska, E.;
Pronicki, M.;
Karczmarewicz, E.;
Sykut-Cegielskâ, Y.;
Taybert, J.

Publication type:

Article

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 675, doi. 10.1023/A:1012763026526

By:

Voznyi, Ya.;
Keulemans, J.;
van Diggelen, O.

Publication type:

Article

Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 657, doi. 10.1023/A:1012711009687

By:

Bergmann, S.;
Herrero, P.;
Sciacca, R.;
Hartman, J.;
Rubin, P.;
Hickey, K.;
Epstein, S.;
Kelly, D.

Publication type:

Article

Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 648, doi. 10.1023/A:1012758925617

By:

Bergwitz, C.;
Prochnau, A.;
Mayr, B.;
Kramer, F.-J.;
Rittierodt, M.;
Berten, H.-L.;
Hausamen, J.-E.;
Brabant, G.

Publication type:

Article

IGF-1 and bFGF reduce glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 631, doi. 10.1023/A:1012706908779

By:

Bjugstad, K.;
Zawada, W.;
Goodman, S.;
Freed, C.

Publication type:

Article

Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 623, doi. 10.1023/A:1012754724708

By:

Rohr, F.;
Munier, A.;
Levy, H.

Publication type:

Article

The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 6, p. 614, doi. 10.1023/A:1012726207870

By:

Mavinakere, M.;
Morizono, H.;
Shi, D.;
Allewell, N.;
Tuchman, M.

Publication type:

Article

Research article.

Published in:: Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 0, doi. 10.1023/A:1017488432262
Publication type:: Article

Increased fertility in a woman with classic galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 507, doi. 10.1023/A:1012432231353

By:

Kimonis, V.

Publication type:

Article

Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 605, doi. 10.1023/A:1012480130445

By:

Rubio-Gozalbo, M.;
van Waardenburg, D.;
Forget, P.;
Spaapen, L.;
Verrips, A.;
Vroomen, P.

Publication type:

Article

Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 603, doi. 10.1023/A:1012428113606

By:

Hochman, J.;
Treem, W.;
Dougherty, F.;
Bentley, R.

Publication type:

Article

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 601, doi. 10.1023/A:1012476029536

By:

Invernizzi, F.;
Burlina, A.;
Donadio, A.;
Giordano, G.;
Taroni, F.;
Garavaglia, B.

Publication type:

Article

Successful pregnancy outcome in atypical hyperglycinaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 599, doi. 10.1023/A:1012424012698

By:

Ellaway, C.;
Mundy, H.;
Lee, P.

Publication type:

Article

Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L-DOPA.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 596, doi. 10.1023/A:1012471928628

By:

Burlina, A.;
Baracchini, C.;
Carollo, C.

Publication type:

Article

Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 587, doi. 10.1023/A:1012419911789

By:

Berry, G.;
Fukao, T.;
Mitchell, G.;
Mazur, A.;
Ciafre, M.;
Gibson, J.;
Kondo, N.;
Palmieri, M.

Publication type:

Article

Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 577, doi. 10.1023/A:1012467827719

By:

Jansen, S.;
Groener, J.;
Bax, W.;
Poorthuis, B.

Publication type:

Article

Phenotype variability in 130 adult patients with respiratory chain disorders.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 560, doi. 10.1023/A:1012415810881

By:

Finsterer, J.;
Jarius, C.;
Eichberger, H.;
Jaksch, M.

Publication type:

Article

A case of PDH-E1α mosaicism in a male patient with severe metabolic lactic acidosis.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 551, doi. 10.1023/A:1012463726810

By:

Seyda, A.;
Chun, K.;
Packman, S.;
Robinson, B.

Publication type:

Article

Decreased half-life of insulin-like growth factor I in Rabson–Mendenhall syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 546, doi. 10.1023/A:1012411709972

By:

Longo, N.;
Singh, R.;
Elsas, L.

Publication type:

Article

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 535, doi. 10.1023/A:1012459625902

By:

Sugie, H.;
Fukuda, T.;
Ito, M.;
Sugie, Y;
Kojoh, T.;
Nonaka, I.

Publication type:

Article

Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 527, doi. 10.1023/A:1012407609063

By:

Wierzbicki, A.;
Watts, G.;
Lynas, J.;
Winder, A.;
Wray, R.

Publication type:

Article

Mutation analysis in Turkish patients with hereditary fructose intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 523, doi. 10.1023/A:1012423624993

By:

Dursun, A.;
Kalkanoğlu, H.;
Coşkun, T.;
Tokatli, A.;
Bittner, R.;
Koçak, N;
Yüce, A.;
Ozalp, I.;
Boehme, H.-J.

Publication type:

Article

Remaining problems in the management of patients with Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 122, doi. 10.1023/A:1012452715079

By:

Erikson, A.

Publication type:

Article

Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 107, doi. 10.1023/A:1012496514170

By:

Cox, T.

Publication type:

Article

Clinically relevant therapeutic endpoints in type I Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 97, doi. 10.1023/A:1012492429191

By:

Hollak, C.;
Maas, M.;
Aerts, J.

Publication type:

Article