DER STAND DES NEUGEBORENEN-SCREENING IN DER SCHWEIZ = L'ETAT DU DEPISTAGE CHEZ LES NOUVEAU-NES EN SUISSEGITZELMANN R.1972; BULL. ACAD. SUISSE SCI. MED.; SUISSE; DA. 1972; VOL. 28; NO 5-6; PP. 294-301; ABS. FR. ITAL. ANGL.; BIBL. 1P.Serial Issue

CLINICAL AND THERAPEUTIC ASPECTS OF NON-KETOTIC HYPERGLYCINAEMIAGITZELMANN R; STEINMANN B.1982; JOURNAL OF INHERITED METABOLIC DISEASE; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; SUPPL. 2; PP. 113-116; BIBL. 2 P.Article

DEKOMPENSIERTE LEBERZIRRHOSE INFOLGE GALAKTOSAEMIE BEI EINEM 52 JAEHRIGEN MANNVOGT M; GITZELMANN R; ALLEMANN J et al.1980; SCHWEIZ. MED. WOCHESCHR.; ISSN 0036-7672; CHE; DA. 1980; VOL. 110; NO 47; PP. 1781-1783; ABS. ENG; BIBL. 5 REF.Article

HEPATIC GLYCOGEN SYNTHETASE DEFICIENCY. DEFINITION OF SYNDROME FROM METABOLIC AND ENZYME STUDIES ON A 9-YEAR-OLD GIRL.AYNSLEY GREEN A; WILLIAMSON DH; GITZELMANN R et al.1977; ARCH. DIS. CHILDH.; G.B.; DA. 1977; VOL. 52; NO 7; PP. 573-579; BIBL. 31 REF.Article

SKIN AND BONE LESIONS (DERMATO-OSTEOLATHYRISM), POSSIBLE SIDE EFFECTS OF D-PENICILLAMINE TREATMENT, IN A BOY WITH CYSTINURIASTEINMANN B; OTTEN A; GITZELMANN R et al.1979; HELV. PAEDIATR. ACTA; CHE; DA. 1979; VOL. 34; NO 3; PP. 281-291; ABS. GER/FRE; BIBL. 46 REF.Article

BLOOD CELL GLYCOGEN SYNTHETASE ACTIVITIES IN HEPATIC GLYCOGEN SYNTHETASE DEFICIENCY.GITZELMANN R; AYNSLEY GREEN A; WILLIAMSON DH et al.1977; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1977; VOL. 79; NO 1; PP. 219-221; BIBL. 10 REF.Article

HEPATIC GLYCOGEN SYNTHETASE DEFICIENCY NOT EXPRESSED IN CULTURED SKIN FIBROBLASTSGITZELMANN R; STEINMANN B; AYNSLEY GREEN A et al.1983; CLINICA CHIMICA ACTA; ISSN 0009-8981; NLD; DA. 1983; VOL. 130; NO 1; PP. 111-115; BIBL. 19 REF.Article

INTRACELLULAR DEGRADATION OF NEWLY SYNTHESIZED COLLAGEN IS CONFORMATION-DEPENDENT. STUDIES IN HUMAN SKIN FIBROBLASTSSTEINMANN B; RAO VH; GITZELMANN R et al.1981; FEBS LETT.; ISSN 0014-5793; NLD; DA. 1981; VOL. 133; NO 1; PP. 142-144; BIBL. 28 REF.Article

THE DIETARY TREATMENT OF HEPATIC GLYCOGEN SYNTHETASE DEFICIENCY.AYNSLEY GREEN A; WILLIAMSON DH; GITZELMANN R et al.1977; HELV. PAEDIATR. ACTA; SUISSE; DA. 1977; VOL. 32; NO 1; PP. 71-75; ABS. ALLEM. FR.; BIBL. 5 REF.Article

HEREDITARY FRUCTOSE INTOLERANCE IN EARLY CHILDHOOD: A MAJOR DIAGNOSTIC CHALLENGE. SURVEY OF 20 SYMPTOMATIC CASESBAERLOCHER K; GITZELMANN R; STEINMANN R et al.1978; HELV. PEDIATR. ACTA; CHE; DA. 1978; VOL. 33; NO 6; PP. 465-487; ABS. GER/FREArticle

URIDINE DIPHOSPHATE GALACTOSE 4'-EPIMERASE DEFICIENCY. IV. REPORT OF EIGHT CASES IN THREE FAMILIES.GITZELMANN R; STEINMANN B; MITCHELL B et al.1977; HELV. PAEDIATR. ACTA; SUISSE; DA. 1977; VOL. 31; NO 6; PP. 441-452; ABS. ALLEM. FR.; BIBL. 12 REF.Article

Oral cornstarch therapy : is persorption harmless ?GITZELMANN, R; SPYCHER, M. A.European journal of pediatrics. 1993, Vol 152, Num 7, pp 592-594, issn 0340-6199Article

ABNORMAL COLLAGEN FIBRIL STRUCTURE IN THE GRAVIS FORM (TYPE I) OF EHLERS-DANLOS SYNDROMEVOGEL A; HOLBROOK KA; STEINMANN B et al.1979; LAB. INVEST.; USA; DA. 1979; VOL. 40; NO 2; PP. 201-206; BIBL. 42 REF.Article

UNUSUALLY MILD COURSE OF BETA -GLUCURONIDASE DEFICIENCY IN TWO BROTHERS (MUCOPOLYSACCHARIDOSIS VII)GITZELMANN R; WIESMANN UN; SPYCHER MA et al.1978; HELV. PAEDIATR. ACTA; CHE; DA. 1978; VOL. 33; NO 4-5; PP. 413-428; ABS. GER/FRE; BIBL. 20 REF.Article

NONKETOTIC HYPERGLYCINEMIA TREATED WITH STRYCHNINE, A GLYCINE RECEPTOR ANTAGONIST.GITZELMANN R; STEINMANN B; OTTEN A et al.1978; HELV. PAEDIATR. ACTA; SUISSE; DA. 1978; VOL. 32; NO 6; PP. 517-525; ABS. ALLEM. FR.; BIBL. 1 P. 1/2Article

Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus arantiiGITZELMANN, R; ARBENZ, U. V; WILLI, U. V et al.European journal of pediatrics. 1992, Vol 151, Num 8, pp 564-568, issn 0340-6199Conference Paper

Myopathie bei der adulten form der Glykogenose II : Zwei Fallberichte und Literaturübersicht = Myopathy in the adult form of glycogenosis IIHORSTMANN, S; MEIER, C; MUMENTHALER, M et al.Fortschritte der Neurologie, Psychiatrie. 1990, Vol 58, Num 9, pp 343-350, issn 0720-4299, 8 p.Article

Presence and absence of the microsomal β-glucuronidase in mice correlates with differences in the processing of the lysosomal enzymeBELTRAMINI-GUARINI, P; GITZELMANN, R; PFISTER, K et al.European journal of cell biology. 1984, Vol 34, Num 1, pp 165-170, issn 0171-9335Article

A mutation (IVS8+0.6kbdeITC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase geneVERVOORT, R; GITZELMANN, R; LISSENS, W et al.Human genetics. 1998, Vol 103, Num 6, pp 686-693, issn 0340-6717Article

Galactose-1-phosphate in the pathophysiology of galactosemiaGITZELMANN, R.European journal of pediatrics. Supplement. 1995, Vol 154, Num 2, pp S45-S49, issn 0943-9676Article

Hypergalactosaemia in a newborn : self-limiting intrahepatic portosystemic venous shuntGITZELMANN, R; FORSTER, I; WILLI, U. V et al.European journal of pediatrics. 1997, Vol 156, Num 9, pp 719-722, issn 0340-6199Article

Essential fructosuria : increased levels of fructose 3-phosphate in erythrocytesPETERSEN, A; STEINMANN, B; GITZELMANN, R et al.Enzyme. 1992, Vol 46, Num 6, pp 319-323, issn 0013-9432Article

Zonal differences of α-glucosidases in human kidney: studies in controls and in patients with glycogenosis type IIPFISTER, K; GITZELMANN, R; STEINMANN, B et al.Clinica chimica acta. 1983, Vol 134, Num 3, pp 307-315, issn 0009-8981Article

Partial deficienty of galactose-1-phosphate uridyltransferaseGITZELMANN, R; BOSSHARD, N. U.European journal of pediatrics. Supplement. 1995, Vol 154, Num 2, pp S40-S44, issn 0943-9676Article

Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by ³¹P magnetic resonance spectroscopyBOESIGER, P; BUCHLI, R; MEIER, D et al.Pediatric research. 1994, Vol 36, Num 4, pp 436-440, issn 0031-3998Article