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Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD
(2010)
van Kuilenburg, A. B. P.
;
Meijer, J.
;
Gökcay, G.
;
Baykal, T.
;
Rubio-Gozalbo, M. E.
;
Mul, A. N. P. M.
;
Die-Smulders, C. E. M. de
;
Weber, P.
;
Mori, A. Capone
;
Bierau, J.
;
Fowler, B.
;
Macke, K.
;
Sass, J. O.
;
Meinsma, R.
;
Hennermann, J. B.
;
Miny, P.
;
Zoetekouw, L.
;
Roelofsen, J.
;
Vijzelaar, R.
;
Nicolai, J.
;
Hennekam, R. C. M.
Identification of 9,13-dicis-retinoic acid as a major plasma metabolite of 9-cis-retinoic acid and limited transfer of 9-cis-retinoic acid and 9,13-dicis-retinoic acid to the mouse and rat embryos
(1994)
Tzimas, G.
;
Sass, J. O.
;
Wittfoht, W.
;
Elmazar, M. M.
;
Ehlers, K.
;
Nau, H.
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
(2005)
Tacke, U.
;
Olbrich, H.
;
Sass, J. O.
;
Fekete, A.
;
Horvath, J.
;
Ziyeh, S.
;
Kleijer, W. J.
;
Rolland, M-O
;
Fisher, S.
;
Payne, S.
;
Vargiami, E.
;
Zafeiriou, D. I.
;
Omran, H.
Odd-numbered long-chain fatty acids in propionic acidaemia
(2000)
Sperl, W.
;
Murr, C.
;
Skladal, D.
;
Sass, J. O.
;
Suormala, T.
;
Baumgartner, R.
;
Wendel, U.
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects
(2000)
Skladal, D.
;
Sass, J. O.
;
Geiger, H.
;
Geiger, R.
;
Mann, C.
;
Vreken, P.
;
Wanders, R. J.
;
Trawöger, R.
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'
(2008)
Scholl-Bürgi, S.
;
Korman, S. H.
;
Applegarth, D. A.
;
Karall, D.
;
Lillquist, Y.
;
Heinz-Erian, P.
;
Davidson, A. G. F.
;
Haberlandt, E.
;
Sass, J. O.
Treatment of neonatal hyperammonaemia
(2001)
Sass, J. O.
;
Sperl, W.
;
Bachmann, C.
Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid
(2004)
Sass, J. O.
;
Skladal, D.
;
Zelger, B.
;
Romani, N.
;
Utermann, B.
Methionine loading in a Down's syndrome patient with cerebral infarction
(1999)
Sass, J. O.
;
Skladal, D.
;
Viertler, E.
Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I
(2000)
Sass, J. O.
;
Skladal, D.
Plasma leptin in prepubertal patients with glycogen storage diseases
(2000)
Sass, J. O.
;
Skladal, D.
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants
(2004)
Sass, J. O.
;
Sander, S.
;
Zschocke, J.
Human isotretinoin metabolism during indinavir therapy
(2000)
Sass, J. O.
;
Padberg, J.
Neurological findings in aminoacylase 1 deficiency
(2007)
Sass, J. O.
;
Olbrich, H.
;
Mohr, V.
;
Hart, C.
;
Woldseth, B.
;
Krywawych, S.
;
Bjurulf, B.
;
Lakhani, P. K.
;
Buchdahl, R. M.
;
Omran, H.
Plasma retinoids after topical use of retinaldehyde on human skin
(1996)
Sass, J. O.
;
Masgrau, E.
;
Piletta, P. A.
;
Nau, H.
;
Saurat, J. H.
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency
(2003)
Sass, J. O.
;
Kishikawa, M.
;
Puttinger, R.
;
Reiss, J.
;
Erwa, W.
;
Shimizu, A.
;
Sperl, W.
L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene
(2008)
Sass, J. O.
;
Jobard, F.
;
Topçu, M.
;
Mahfoud, A.
;
Werlé, E.
;
Cure, S.
;
Al-Sannaa, N.
;
Alshahwan, S. A.
;
Bataillard, M.
;
Cimbalistiene, L.
;
Grolik, C.
;
Kemmerich, V.
;
Omran, H.
;
Sztriha, L.
;
Tabache, M.
;
Fischer, J.
Paronychia with pyogenic granuloma in a child treated with indinavir: the retinoid-mediated side effect theory revisited
(2000)
Sass, J. O.
;
Jakob-Sölder, B.
;
Heitger, A.
;
Tzimas, G.
;
Sarcletti, M.
Propionic acidemia revisited: a workshop report
(2004)
Sass, J. O.
;
Hofmann, M.
;
Skladal, D.
;
Mayatepek, E.
;
Schwahn, B.
;
Sperl, W.
Increased CSF cortisol in AD is a function of APOE genotype
(2001)
Sass, J. O.
;
Heinz-Erian, P.
;
Högler, W.
Transplacental pharmacokinetics of a synthetic retinoid which is not bound by mouse embryonic cellular retinoic acid-binding protein
(1995)
Sass, J. O.
;
Hartmann, J.
;
Chahoud, I.
;
Shroot, B.
;
Nau, H.
Glucuronidation and isomerization of all-trans- and 13-cis-retinoic acid by liver microsomes of phenobarbital- or 3-methylcholanthrene-treated rats
(1994)
Sass, J. O.
;
Forster, A.
;
Bock, K. W.
;
Nau, H.
Metabolism of topical retinaldehyde and retinol by mouse skin in vivo: predominant formation of retinyl esters and identification of 14-hydroxy-4, 14-retro-retinol
(1996)
Sass, J. O.
;
Didierjean, L.
;
Carraux, P.
;
Plum, C.
;
Nau, H.
;
Saurat, J. H.
Mechanisms of brain injury in infantile child abuse
(2001)
Sass, J. O.
;
Crazzolara, R.
;
Heinz-Erian, P.
Serum vitamin A is elevated in idiopathic intracranial hypertension
(2000)
Sass, J. O.
;
Arnhold, T.
;
Tzimas, G.
;
Jacobson, D. M.
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