Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 2

Results: 22

3rd International Conference on Homocysteine Metabolism.

Published in:: Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 230, doi. 10.1023/A:1017356124921
Publication type:: Article

Diagnosis of mitochondrial disorders: Clinical and biochemical approach.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 312, doi. 10.1023/A:1010347808082

By:

Thorburn, D.;
Smeitink, J.

Publication type:

Article

The management of organic acidaemias: The role of transplantation.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 309, doi. 10.1023/A:1010395724012

By:

Leonard, J.;
Walter, J.;
McKiernan, P.

Publication type:

Article

Amino acids: Analytical aspects.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 305, doi. 10.1023/A:1010343707174

By:

Mayne, P.;
Roche, G.;
Deverell, D.

Publication type:

Article

Newborn mass screening versus selective investigation: Benefits and costs.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 299, doi. 10.1023/A:1010339606265

By:

Pollitt, R.

Publication type:

Article

Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 291, doi. 10.1023/A:1010387522195

By:

Wilcken, B.

Publication type:

Article

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 275, doi. 10.1023/A:1010335505357

By:

Platt, F.;
Jeyakumar, M.;
Andersson, U.;
Priestman, D.;
Dwek, R.;
Butters, T.;
Cox, T.;
Lachmann, R.;
Hollak, C.;
Aerts, J.;
Van Weely, S.;
Hrebícek, M.;
Moyses, C.;
Gow, I.;
Elstein, D.;
Zimran, A.

Publication type:

Article

Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 266, doi. 10.1023/A:1010383421286

By:

Van den Hout, J.;
Reuser, A.;
de Klerk, J.;
Arts, W.;
Smeitink, J.;
Van der Ploeg, A.

Publication type:

Article

Enzyme replacement and beyond.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 251, doi. 10.1023/A:1010331404448

By:

Desnick, R.

Publication type:

Article

Liver repopulation for the treatment of metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 231, doi. 10.1023/A:1010375203539

By:

Grompe, M.

Publication type:

Article

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 213, doi. 10.1023/A:1010371002631

By:

Erlandsen, H.;
Stevens, R.

Publication type:

Article

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 189, doi. 10.1023/A:1010319001722

By:

Gregersen, N.;
Bross, P.;
Andresen, B.;
Pedersen, C.;
Corydon, T.;
Bolund, L.

Publication type:

Article

Clinical and molecular studies of mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 181, doi. 10.1023/A:1010366917652

By:

Goto, Y.

Publication type:

Article

Import of proteins into mitochondria: A novel pathomechanism for progressive neurodegeneration.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 166, doi. 10.1023/A:1010314900814

By:

Bauer, M.;
Neupert, W.

Publication type:

Article

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 151, doi. 10.1023/A:1010310816743

By:

Suzuki, Y.;
Shimozawa, N.;
Imamura, A.;
Fukuda, S.;
Zhang, Z.;
Orii, T.;
Kondo, N.

Publication type:

Article

Applications of mass spectrometry in the study of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 139, doi. 10.1023/A:1010358715835

By:

Clayton, P.

Publication type:

Article

Changes in clinical practice with the unravelling of diseases: Connective-tissue disorders.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 117, doi. 10.1023/A:1010354614926

By:

Spranger, J.

Publication type:

Article

The use of functional genomics in C. elegans for studying human development and disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 127, doi. 10.1023/A:1010306731764

By:

Kuwabara, P.;
O'Neil, N.

Publication type:

Article

Garrod's foresight; our hindsight.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 093, doi. 10.1023/A:1010351630856

By:

Scriver, C.

Publication type:

Article

Preface.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 091, doi. 10.1023/A:1010348616123

By:

Fowler, Brian;
Besley, Guy

Publication type:

Article

New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 303, doi. 10.1023/A:1010391623104

By:

Albers, S.;
Waisbren, S.;
Ampola, M.;
Brewster, T.;
Burke, L.;
Demmer, L.;
Filiano, J.;
Greenstein, R.;
Ingham, C.;
Korson, M.;
Marsden, D.;
Schwartz, R.;
Seashore, M.;
Shih, V.;
Levy, H.

Publication type:

Article

Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 245, doi. 10.1023/A:1010379320378

By:

Wraith, J.

Publication type:

Article