3 KINDER MIT CRI-DU-CHAT-SYNDROM = 3 ENFANTS PORTEURS DU SYNDROME DU CRI-DU-CHATPICHLER E; SCHEIBENREITER S.1973; WIEN. MED. WSCHR.; OESTERR.; DA. 1973; VOL. 123; NO 1-2; PP. 19-21; BIBL. 5REF.Serial Issue

OPHTHALMOLOGISCHE VERLAUFSBEOBACHTUNG BEI GALAKTOSAEMIE. = LA SURVEILLANCE OPHTHALMOLOGIQUE DANS LA GALACTOSEMIEZEHETBAUER G; SCHEIBENREITER S.1977; KLIN. PAEDIATR.; DTSCH.; DA. 1977; VOL. 189; NO 6; PP. 451-454; ABS. ANGL.; BIBL. 4 REF.Article

PARTIELLE TRISOMIE 9 MIT TEILWEISE ERHALTENEM LANGEN ARM. = TRISOMIE 9 PARTIELLE AVEC BRAS LONG PARTIELLEMENT RETENUSCHEIBENREITER S; SZILVASSY J; ENDER H et al.1976; WIEN. KLIN. WSCHR.; OESTERR.; DA. 1976; VOL. 88; NO 8; PP. 264-267; ABS. ANGL.; BIBL. 6 REF.Article

TREACHER. COLLINS. SYNDROM. FRANCESCHETTI-KLEIN-SYNDROM. = LE SYNDROME DE TREACHER-COLLINS. SYNDROME DE FRANCESCHETTI-KLEINSCHOBER E; GOETZ M; SCHEIBENREITER S et al.1977; MONATSSCHR. KINDERHEILKDE; DTSCH.; DA. 1977; VOL. 125; NO 11; PP. 938-940; ABS. ANGL.; BIBL. 9 REF.Article

PROSPECTIVE AND RETROSPECTIVE EXAMINATION OF AN EASILY APPLICABLE SCORE TO PREDICT THE PROBABILITY OF PREMATURE BIRTH DEFINED BY WEIGHT.THALHAMMER O; CORADELLO H; POLLAK A et al.1976; J. PERINAT. MED.; GERMAN.; DA. 1976; VOL. 4; NO 1; PP. 38-44; ABS. ALLEM. FR.; BIBL. 5 REF.Article

INTRACELLULAR PHENYLALANINE AND TYROSINE CONCENTRATION IN HOMOZYGOTES AND HETEROZYGOTES FOR PHENYLKETONURIA (PKU) AND HYPERPHENYLALANINEMIA COMPARED WITH NORMALSTHALHAMMER O; LUBEC G; KOENIGSHOFER H et al.1982; HUM. GENET.; ISSN 0340-6717; DEU; DA. 1982; VOL. 60; NO 4; PP. 320-321; BIBL. 7 REF.Article

TURNER-SYNDROM MIT DEM CHROMOSOMENMOSAIK 45XO/47XYY = SYNDROME DE TURNER AVEC MOSAICISME CHROMOSOMIQUE 45XO/45XYYSCHOBER E; FRISCH H; WALDHAUSER F et al.1981; MONATSSCHR. KINDERHEILKD.; ISSN 0026-9298; DEU; DA. 1981; VOL. 129; NO 8; PP. 479-481; ABS. ENG; BIBL. 11 REF.Article

ZWOELF JAHRE OESTERREICHISCHES PROGRAMM ZUR FRUEHERFASSUNG ANGEBORENER STOFFWECHSELANOMALIEN. ERGEBNISSE UNTER BESONDERER BERUECKSICHTIGUNG VON PHENYLKETONURIE, HYPERPHENYLALANINAEMIE UND HISTIDINAEMIE = LE PROGRAMME AUTRICHIEN DE 12 ANNEES POUR LE DEPISTAGE PRECOCE DES ANOMALIES METABOLIQUES CONGENITALES. LES RESULTATS EN TENANT COMPTE EN PARTICULIER DE LA PHENYLCETONURIE, DE L'HYPERPHENYLALANINEMIE ET DE L'HISTIDINEMIETHALHAMMER O; SCHEIBENREITER S; KNOLL E et al.1980; KLIN. PAEDIATR.; ISSN 0300-8630; DEU; DA. 1980; VOL. 192; NO 6; PP. 589-598; ABS. ENG; BIBL. 25 REF.Article

18p monosomy with GH-deficiency and empty sella : good response to GH-treatmentSCHOBER, E; SCHEIBENREITER, S; FRISCH, H et al.Clinical genetics. 1995, Vol 47, Num 5, pp 254-256, issn 0009-9163Article

ATYPICAL PHENYLKETONURIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCY. DIAGNOSIS AND TREATMENT WITH TETRAHYDROBIOPTERIN, DIHYDROBIOPTERIN AND SEPIAPTERINCURTIUS HC; NIEDERWIESER A; VISCONTINI M et al.1979; CLIN. CHIM. ACTA; NLD; DA. 1979; VOL. 93; NO 2; PP. 251-262; BIBL. 33 REF.Article

Gonadotropinsekretion bei Kindern mit Galaktosämie = Sécrétion de gonadotropines chez les enfants avec galactosémie = Gonadotrophin secretion during galactosemia in childrenSCHOBER, E; SCHEIBENREITER, S; FRISCH, M et al.Monatsschrift für Kinderheilkunde. 1987, Vol 135, Num 9, pp 660-662, issn 0026-9298Article

Familial pseudohypoaldosteronismPOPOV, C; POLLAK, A; HERKNER, K et al.Acta paediatrica scandinavica. 1988, Vol 77, Num 1, pp 136-141, issn 0001-656XArticle

Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency : Endocrine studies in an affected girlBIRNBACHER, R; SCHEIBENREITER, S; BLAU, N et al.Pediatric research. 1998, Vol 43, Num 4, pp 472-477, issn 0031-3998, 1Article

Comparison of patients with complete and partial biotinidase deficiency : biochemical studiesSUORMALA, T. M; BAUMGARTNER, E. R; WICK, H et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 1, pp 76-92, issn 0141-8955Article

Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency : no impairment of intellectual and psychomotor development during therapyWIDHALM, K; KOCH, S; SCHEIBENREITER, S et al.Pediatrics (Evanston). 1992, Vol 89, Num 6, pp 1182-1184, issn 0031-4005, 2Article