Works matching IS 01418955 AND DT 1997 AND VI 20 AND IP 4

Results: 27

Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 615, doi. 10.1023/A:1005387932546

By:

Pavlů, H.;
Elleder, M.

Publication type:

Article

Fenugreek odour in maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 614, doi. 10.1023/A:1005335915708

By:

Monastiri, K.;
Limame, K.;
Kaabachi, N.;
Kharrat, H.;
Bousnina, S.;
Pousse, H.;
Radhouane, M.;
Gueddiche, M.;
Snoussi, N.

Publication type:

Article

Symptomatic hyperinsulinism reversed by dietary manipulation in glycogenosis type III.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 612, doi. 10.1023/A:1005383831637

By:

Lee, P.;
Ferguson, C.;
Alexander, F.

Publication type:

Article

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 611, doi. 10.1023/A:1005331814799

By:

Hodaňová, K.;
Hřebíček, M.;
Červenková, M.;
Aerts, J.;
Zeman, J.

Publication type:

Article

Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 610, doi. 10.1023/A:1005379730729

By:

Owen, E.;
Berens, J.;
Marinaki, A.;
Ipp, H.;
Harley, E.

Publication type:

Article

Glycerol kinase deficiency and adrenal hypoplasia congenita.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 609, doi. 10.1023/A:1005327713890

By:

Clarke, R.;
Howard, N.;
O'Sullivan, W.;
Svirklys, L.;
Mackinlay, A.

Publication type:

Article

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 607, doi. 10.1023/A:1005375629820

By:

Müller, D.;
Santer, R.;
Krawinkel, M.;
Christiansen, B.;
Schaub, J.

Publication type:

Article

Adenylosuccinase deficiency presenting with epilepsy in early infancy.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 606, doi. 10.1023/A:1005323512982

By:

Maaswinkel-Mooij, P.D.;
Laan, L.;
Onkenhout, W.;
Brouwer, O.;
Jaeken, J.;
Poorthuis, B.

Publication type:

Article

Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 604, doi. 10.1023/A:1005371428912

By:

Morris, A.;
Olpin, S.;
Van't Hoff, W.;
Johnson, A.;
Leonard, J.

Publication type:

Article

Vitamin B12 deficiency in an adult phenylketonuric patient.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 603, doi. 10.1023/A:1005319412073

By:

Aung, T.;
Klied, A.;
McGinn, J.;
McGinn, T.

Publication type:

Article

Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 595, doi. 10.1023/A:1005367328003

By:

Young, E.;
Chatterton, C.;
Vellodi, A.;
Winchester, B.

Publication type:

Article

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 587, doi. 10.1023/A:1005315311165

By:

Kleijer, W.;
Keulemans, J.;
van der Kraan, M.;
Geilen, G.;
van der Helm, R.;
Rafi, M.;
Luzi, P.;
Wenger, D.;
Halley, D.;
van Diggelen, O.

Publication type:

Article

Effect of plasma α-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 581, doi. 10.1023/A:1005311227094

By:

Kohlschütter, A.;
Mayatepek, E.;
Finckh, B.;
Hübner, C.

Publication type:

Article

Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 578, doi. 10.1023/A:1005355026186

By:

van Rooij, A.;
Nijenhuis, A.;
Wijburg, F.;
Schutgens, R.

Publication type:

Article

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 569, doi. 10.1023/A:1005303008439

By:

Briones, P.;
Vilaseca, M.;
Ribes, A.;
Vernet, A.;
Lluch, M.;
Cusi, V.;
Huckriede, A.;
Agsteribbe, E.

Publication type:

Article

Metabolic control and renal dysfunction in type I glycogen storage disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 559, doi. 10.1023/A:1005346824368

By:

Wolfsdorf, J.;
Laffel, L.;
Crigler, J.

Publication type:

Article

A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 556, doi. 10.1023/A:1005394706622

By:

Kroos, M.;
Waitfield, A.;
Joosse, M.;
Winchester, B.;
Reuser, A.;
MacDermot, K.

Publication type:

Article

A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 549, doi. 10.1023/A:1005357622551

By:

Manis, F.;
Cohn, L.;
McBride-Chang, C.;
Wolff, J.;
Kaufman, F.

Publication type:

Article

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 539, doi. 10.1023/A:1005305614374

By:

Naito, E.;
Ito, M.;
Yokota, I.;
Saijo, T.;
Matsuda, J.;
Osaka, H.;
Kimura, S.;
Kuroda, Y.

Publication type:

Article

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 528, doi. 10.1023/A:1005353530303

By:

Rosenblatt, D.;
Aspler, A.;
Shevell, M.;
Pletcher, B.;
Fenton, W.;
Seashore, M.

Publication type:

Article

Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 525, doi. 10.1023/A:1005301513465

By:

Tuchman, M.;
Morizono, H.;
Rajagopal, B.;
Plante, R.;
Allewell, N.

Publication type:

Article

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 517, doi. 10.1023/A:1005397329395

By:

Vella, S.;
Steiner, F.;
Schlumbom, V.;
Zurbrügg, R.;
Wiesmann, U.;
Schaffner, T.;
Wermuth, B.

Publication type:

Article

Mitochondrial abnormalities of liver in two children with citrullinaemia.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 509, doi. 10.1023/A:1005341228486

By:

Zamora, S.;
Pinto, A.;
Scott, R.;
Parsons, H.

Publication type:

Article

Adult psychosocial outcome in early-treated phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 499, doi. 10.1023/A:1005389110739

By:

Ris, M.;
Weber, A.;
Hunt, M.;
Berry, H.;
Williams, S.;
Leslie, N.

Publication type:

Article

Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 486, doi. 10.1023/A:1005337126669

By:

Prince, A.;
McMurry, M.;
Buist, N.

Publication type:

Article

Abnormal glutathione conjugation in patients with tyrosinaemia type I.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 473, doi. 10.1023/A:1005385009831

By:

Mulders, T.;
Bergman, D.;
Poll-The, B.-T.;
Smit, G.;
Breimer, D.;
Mulder, G.;
Duran, M.;
Smeitink, J.

Publication type:

Article

Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 463, doi. 10.1023/A:1005314025760

By:

Jouvet, P.;
Poggi, F.;
Rabier, D.;
Michel, J.;
Hubert, P.;
Sposito, M.;
Saudubray, J.;
Man, N.

Publication type:

Article