Works matching IS 01418955 AND DT 2001 AND VI 24

Results: 142

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

Lessons learned from the development of enzyme therapy for Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 89, doi. 10.1023/A:1012440428282

By:

Barranger, J.;
O'Rourke, E.

Publication type:

Article

Commentary.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 87, doi. 10.1023/A:1012432211444

By:

Cox, T.

Publication type:

Article

Cardiac manifestations in Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 75, doi. 10.1023/A:1012428009627

By:

Linhart, A.;
Lubanda, J.-C.;
Palecek, T.;
Bultas, J.;
Karetová, D.;
Ledvinová, J.;
Elleder, M.;
Aschermann, M.

Publication type:

Article

Renal disease in Fabry patients.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 71, doi. 10.1023/A:1012475908718

By:

Grünfeld, J.-P.;
Lidove, O.;
Joly, D.;
Barbey, F.

Publication type:

Article

Renal pathological changes in Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 66, doi. 10.1023/A:1012423924648

By:

Sessa, A.;
Meroni, M.;
Battini, G.;
Maglio, A.;
Brambilla, P.;
Bertella, M.;
Nebuloni, M.;
Pallotti, F.;
Giordano, F.;
Bertagnolio, B.;
Tosoni, A.

Publication type:

Article

Commentary.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 65, doi. 10.1023/A:1012471807810

By:

Grünfeld, J.-P.

Publication type:

Article

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 57, doi. 10.1023/A:1012419823739

By:

Maire, I.

Publication type:

Article

Are there useful biochemical markers of disease activity in lysosomal storage diseases?

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 52, doi. 10.1023/A:1012415706901

By:

Winchester, B.

Publication type:

Article

Variable clinical presentation in lysosomal storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 47, doi. 10.1023/A:1012463605992

By:

Beck, M.

Publication type:

Article

Commentary.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 45, doi. 10.1023/A:1012459521922

By:

Hopwood, J.

Publication type:

Article

Gene therapy for Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 25, doi. 10.1023/A:1012455421014

By:

Sitaskas, C.;
Medin, J.

Publication type:

Article

Enzyme replacement therapy in Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 18, doi. 10.1023/A:1012451320105

By:

Brady, R.;
Murray, G.;
Moore, D.;
Schiffmann, R.

Publication type:

Article

Natural history of Fabry disease in males: preliminary observations.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 15, doi. 10.1023/A:1012499119196

By:

Schiffmann, R.

Publication type:

Article

Commentary.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 11, doi. 10.1023/A:1012495018288

By:

Brady, R.

Publication type:

Article

Natural history of Fabry disease in affected males and obligate carrier females.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 13, doi. 10.1023/A:1012447102358

By:

MacDermot, K.;
Holmes, A.;
Miners, A.

Publication type:

Article

An historical overview of Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 3, doi. 10.1023/A:1012443001449

By:

Fabry, H.

Publication type:

Article

Foreword.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, p. 1, doi. 10.1023/A:1012436317379

By:

Aerts, Hans;
Beck, Michael;
Cox, Timothy

Publication type:

Article

SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 517, doi. 10.1023/A:1010598109582

By:

Meaney, C.;
Cranston, T.;
Lee, P.;
Genet, S.

Publication type:

Article

The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001.

Published in:: 2001
Publication type:: Book Review

SHORT REPORT: PKU adults and their return to diet: Predicting diet continuation and maintenance.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 515, doi. 10.1023/A:1010546000617

By:

Finkelson, L.;
Bailey, I.;
Waisbren, S.

Publication type:

Article

SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 513, doi. 10.1023/A:1010593916546

By:

Barshop, B.;
Nyhan, W.;
Climent, C.;
Rubio, V.

Publication type:

Article

CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 511, doi. 10.1023/A:1010541932476

By:

Tomaske, M.;
Bosk, A.;
Heinemann, M.;
Sieverding, L.;
Baumgartner, E.;
Fowler, B.;
Trefz, F.

Publication type:

Article

CASE REPORT: A Korean girl with α-aminoadipic and α-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 509, doi. 10.1023/A:1010589815638

By:

Lee, J-S.;
Yoon, H-R.;
Coe, C.

Publication type:

Article

CASE REPORT: Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 507, doi. 10.1023/A:1010537831567

By:

Odièvre, M.;
Brivet, M.;
Rivière, M-F.;
Labrune, P.

Publication type:

Article

CASE REPORT: Early-onset lysosomal glycogen storage disease with normal acid maltase.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 504, doi. 10.1023/A:1010585714729

By:

Dayan, R.;
Renaud, D.

Publication type:

Article

Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 493, doi. 10.1023/A:1010533730659

By:

Ruiz-Sanz, J.;
Aldamiz-Echevarria, L.;
Arrizabalaga, J.;
Aquino, L.;
Jimeno, P.;
Pérez-Nanclares, G.;
Sanjurjo, P.

Publication type:

Article

Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 465, doi. 10.1023/A:1010529629750

By:

Yager, C.;
Gibson, J.;
States, B.;
Elsas, L.;
Segal, S.

Publication type:

Article

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 477, doi. 10.1023/A:1010581613821

By:

Van Geet, C.;
Jaeken, J.;
Freson, K.;
Lenaerts, T.;
Arnout, J.;
Vermylen, J.;
Hoylaerts, M.

Publication type:

Article

Glycine N -methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 448, doi. 10.1023/A:1010577512912

By:

Mudd, S.;
Cerone, R.;
Schiaffino, M.;
Fantasia, A.;
Minniti, G.;
Caruso, U.;
Lorini, R.;
Watkins, D.;
Matiaszuk, N.;
Rosenblatt, D.;
Schwahn, B.;
Rozen, R.;
LeGros, L.;
Kotb, M.;
Capdevila, A.;
Luka, Z.;
Finkelstein, J.;
Tangerman, A.;
Stabler, S.;
Allen, R.

Publication type:

Article

The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine β-synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 437, doi. 10.1023/A:1010525528842

By:

Yap, S.;
Rushe, H.;
Howard, P.;
Naughten, E.

Publication type:

Article

Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 427, doi. 10.1023/A:1010588112003

By:

Somers, K.;
Brown, D.;
Fulton, R.;
Schultheiss, P.;
Hamar, D.;
Smith, M.;
Allison, R.;
Connally, H.;
Just, C.;
Mitchell, T.;
Wenger, D.;
Thrall, M.

Publication type:

Article

Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 423, doi. 10.1023/A:1010545811361

By:

Elpeleg, O.;
Korman, S.

Publication type:

Article

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 421, doi. 10.1023/A:1010537527291

By:

Tóth, G.;
Morava, É.;
Bene, J.;
Selhorst, J.;
Overmars, H.;
Vreken, P.;
Molnár, J.;
Farkas, V.;
Melegh, B.

Publication type:

Article

Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 419, doi. 10.1023/A:1010585425473

By:

Boneh, A.;
Auldist, A.;
Francis, D.;
Casanelia, S.;
Warwick, L.;
Tiedemann, K.

Publication type:

Article

Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 417, doi. 10.1023/A:1010533408635

By:

Albers, S.;
Levy, H.;
Irons, M.;
Strauss, A.;
Marsden, D.

Publication type:

Article

Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 415, doi. 10.1023/A:1010581324565

By:

Hoover-Fong, J.;
Geraghty, M.;
Raymond, G.;
Thomas, G.

Publication type:

Article

Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 413, doi. 10.1023/A:1010577207726

By:

Tsimaratos, M.;
Kone-Paut, I.;
Divry, P.;
Philip, N.;
Chabrol, B.

Publication type:

Article

Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 411, doi. 10.1023/A:1010525206818

By:

Di Rocco, M.;
Caruso, U.;
Waterham, H.;
Picco, P.;
Loy, A.;
Wanders, R.

Publication type:

Article

Ketoacidosis: an unusual presentation of MELAS.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 409, doi. 10.1023/A:1010573122748

By:

Strachan, J.;
McLellan, A.;
Kirkpatrick, M.;
Hume, R.;
Mechan, D.

Publication type:

Article

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 404, doi. 10.1023/A:1010569021839

By:

Riudor, E.;
Arranz, J.;
Alvarez, R.;
Carlsson, K.;
del Toro, M.;
Salmerón, F.;
Piñol, F.;
Ristoff, E.;
Sentís, M.;
Larsson, A.

Publication type:

Article

Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 407, doi. 10.1023/A:1010521105909

By:

Yoon, H.-R.;
Strauss, A.;
Yoo, H.-W.

Publication type:

Article

Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: Culturally permissible testing in the Mennonite community.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 393, doi. 10.1023/A:1010517005001

By:

Love-Gregory, L.;
Dyer, J.;
Grasela, J.;
Hillman, R.;
Phillips, C.

Publication type:

Article

Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene ( CYP27).

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 379, doi. 10.1023/A:1010564920930

By:

Sugama, S.;
Kimura, A.;
Chen, W.;
Kubota, S.;
Seyama, Y.;
Taira, N.;
Eto, Y.

Publication type:

Article

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 370, doi. 10.1023/A:1010560704092

By:

Stadler, S.;
Gempel, K.;
Bieger, I.;
Pontz, B.;
Gerbitz, K.-D.;
Bauer, M.;
Hofmann, S.

Publication type:

Article

Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 367, doi. 10.1023/A:1010556603183

By:

Kalkanoğlu, H.;
Coşkun, T.;
Aydoğdu, S.;
Tokatli, A.;
Gürgey, A.

Publication type:

Article

Plasma phenylalanine is asociated with decreased serum ubiquine-10 concentrations in phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 359, doi. 10.1023/A:1010500502275

By:

Artuch, R.;
Colomé, C.;
Vilaseca, M.;
Sierra, C.;
Cambra, F.;
Lambruschini, N.;
Campistol, J.

Publication type:

Article

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 352, doi. 10.1023/A:1010596317296

By:

Spaapen, L.;
Bakker, J.;
Velter, C.;
Loots, W.;
Rubio-Gonzalbo, M.;
Forget, P.;
Dorland, L.;
De Koning, T.;
Poll-The, B.;
Ploos Van Amstel, H.;
Bekhof, J.;
Blau, N.;
Duran, M.

Publication type:

Article