Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS) (English)
- New search for: Haas, D.
- New search for: Garbade, S. F.
- New search for: Vohwinkel, C.
- New search for: Muschol, N.
- New search for: Trefz, F. K.
- New search for: Penzien, J. M.
- New search for: Zschocke, J.
- New search for: Hoffmann, G. F.
- New search for: Burgard, P.
- New search for: Haas, D.
- New search for: Garbade, S. F.
- New search for: Vohwinkel, C.
- New search for: Muschol, N.
- New search for: Trefz, F. K.
- New search for: Penzien, J. M.
- New search for: Zschocke, J.
- New search for: Hoffmann, G. F.
- New search for: Burgard, P.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
;
30
, 3
;
375-387
;
2007
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ISSN:
- Article (Journal) / Print
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Title:Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)
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Contributors:Haas, D. ( author ) / Garbade, S. F. ( author ) / Vohwinkel, C. ( author ) / Muschol, N. ( author ) / Trefz, F. K. ( author ) / Penzien, J. M. ( author ) / Zschocke, J. ( author ) / Hoffmann, G. F. ( author ) / Burgard, P. ( author )
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 30, 3 ; 375-387
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Publisher:
- New search for: Springer Science + Business Media
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Publication date:2007-01-01
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Size:13 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 616.39
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.39 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 30, Issue 3
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 279
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Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ‐hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1−/− mice and characterization of γ‐hydroxybutyric acid pharmacologyKnerr, I. / Pearl, P. L. / Bottiglieri, T. / Carter Snead, O. / Jakobs, C. / Gibson, K. M. et al. | 2007
- 295
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Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditionsSimoni, R. E. / Ferreira Gomes, L. N. L. / Scalco, F. B. / Oliveira, C. P. H. / Aquino Neto, F. R. / Costa de Oliveira, M. L. et al. | 2007
- 310
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Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase‐associated neurodegenerationKuo, Y. M. / Hayflick, S. J. / Gitschier, J. et al. | 2007
- 318
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Regionally selective decreases in cerebral glucose metabolism in a mouse model of phenylketonuriaQin, M. / Beebe Smith, C. et al. | 2007
- 326
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Dietary long‐chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trialKoletzko, B. / Sauerwald, T. / Demmelmair, H. / Herzog, M. / von Schenck, U. / Böhles, H. / Wendel, U. / Seidel, J. et al. | 2007
- 333
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Mitochondrial disease: Needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phaseNoorda, G. / Hermans‐Peters, M. / Smeitink, J. / van Achterberg, T. / Kemps, H. / Goverde, W. / Schoonhoven, L. et al. | 2007
- 341
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Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe IslandsLund, A. M. / Joensen, F. / Hougaard, D. M. / Jensen, L. K. / Christensen, E. / Christensen, M. / Nørgaard‐Petersen, B. / Schwartz, M. / Skovby, F. et al. | 2007
- 350
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A novel starch for the treatment of glycogen storage diseasesBhattacharya, K. / Orton, R. C. / Qi, X. / Mundy, H. / Morley, D. W. / Champion, M. P. / Eaton, S. / Tester, R. F. / Lee, P. J. et al. | 2007
- 358
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Bovine mucopolysaccharidosis type IIIBKarageorgos, L. / Hill, B. / Bawden, M. J. / Hopwood, J. J. et al. | 2007
- 365
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High incidence of autoantibodies in Fabry disease patientsMartinez, P. / Aggio, M. / Rozenfeld, P. et al. | 2007
- 370
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Hearing loss in a family affected by Fabry diseaseSergi, Bruno / Conti, Guido et al. | 2007
- 375
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Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)Haas, D. / Garbade, S. F. / Vohwinkel, C. / Muschol, N. / Trefz, F. K. / Penzien, J. M. / Zschocke, J. / Hoffmann, G. F. / Burgard, P. et al. | 2007
- 388
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Statin therapy depresses total body fat oxidation in the absence of genetic limitations to fat oxidationFisher, N. M. / Meksawan, K. / Limprasertkul, A. / Isackson, P. J. / Pendergast, D. R. / Vladutiu, G. D. et al. | 2007
- 400
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A trial with N‐carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onsetNordenström, A. / Halldin, M. / Hallberg, B. / Alm, J. et al. | 2007
- 401
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Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutationRummel, T. / Suormala, T. / Häberle, J. / Koch, H. G. / Berning, C. / Perrett, D. / Fowler, B. et al. | 2007
- 402
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Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intoleranceBenninga, M. A. / Lilien, M. / de Koning, T. J. / Duran, M. / Versteegh, F. G. A. / Goldschmeding, R. / Poll‐The, B. T. et al. | 2007
- 404
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Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T>GPettman, R. / Hurley, T. / Addis, J. / Robinson, B. / Scott, H. / Kronick, J. B. et al. | 2007
- 405
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Effects of a fat load and exercise on asymptomatic VLCAD deficiencySpiekerkoetter, U. et al. | 2007
- 405
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Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: A case reportChiong, M. A. / Carpenter, K. / Christodoulou, J. et al. | 2007
- 406
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Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IXGeberhiwot, T. / Alger, S. / McKiernan, P. / Packard, C. / Caslake, M. / Elias, E. / Cramb, R. et al. | 2007
- 407
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Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfallsAdamowicz, M. / Płoski, R. / Rokicki, D. / Morava, E. / Giżewska, M. / Mierzewska, H. / Pollak, A. / Lefeber, D. J. / Wevers, R. A. / Pronicka, E. et al. | 2007