DEFICIENCY OF URIDINE DIPHOSPHATE GALACTOSE 4-EPIMERASE IN BLOOD CELLS OF AN APPARENTLY HEALTHY INFANT. PRELIMINARY COMMUNICATION = LE DEFICIT EN URIDINE DIPHOSPHATE GALACTOSE-4-EPIMERASE DANS LES CELLULES SANGUINES D'UN ENFANT APPAREMMENT SAIN. UNE COMMUNICATION PRELIMINAIREGITZELMANN R.1972; HELV. PAEDIATR. ACTA; SUISSE; DA. 1972; VOL. 27; NO 2; PP. 125-130; ABS. ALLEM.; BIBL. 12 REF.Serial Issue

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

FRUEHERFASSUNG VON ANOMALIEN IM GALAKTOSESTOFFWECHEL. METHODEN UND RESULTATE. = LE DEPISTAGE PRECOCE DES ANOMALIES DU METABOLISME DU GALACTOSE. METHODES ET RESULTATSGITZELMANN R.1976; MONATSSCHR. KINDERHEILKDE; DTSCH.; DA. 1976; VOL. 124; NO 9; PP. 654-657; BIBL. 22 REF.Article

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

GLYCOGENOSIS TYPE I (GLUCOSE 6-PHOSPHATASE DEFICIENCY). I: ULTRASTRUCTURAL MORPHOMETRIC ANALYSIS OF JUVENILE LIVER CELLSRIEDE UN; SPYCHER MA; GITZELMANN R et al.1980; PATHOL. RES. PRACT.; DEU; DA. 1980; VOL. 167; NO 1; PP. 136-150; BIBL. 3 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

Vererbte Krankheiten mit Bandlaxität = Maladies héréditaires avec hyperlaxité articulaire = Heritable disorders with joint laxitySTEINMANN, B; GITZELMANN, R.Der Orthopäde. 1984, Vol 13, Num 1, pp 9-18, issn 0085-4530Article

NUTRITIVE VALUE OF N-ACETYL-L-TRYPTOPHAN IN MANWEGMANN H; CURTIUS HC; GITZELMANN R et al.1979; HELV. PAEDIATR. ACTA; CHE; DA. 1979; VOL. 34; NO 5; PP. 497-508; ABS. GER/FRE; BIBL. 21 REF.Article

CATALYTICALLY INACTIVE SUCRASE ANTIGEN OF RABBIT SMALL INTESTINE: THE ENZYME PRECURSOR = L'ANTIGENE D'UNE SACCHARASE INACTIVE AU PLAN CATALYTIQUE DE L'INTESTIN GRELE DU LAPIN: LE PRECURSEUR ENZYMATIQUEDUBS R; GITZELMANN R; STEINMANN B et al.1975; HELV. PAEDIATR. ACTA; SUISSE; DA. 1975; VOL. 30; NO 1; PP. 89-102; BIBL. 1P.1/2Article

ANTIBODY ACTIVATION OF MUTANT FRUCTOSEDIPHOSPHATE ALDOLASE B IN LIVER EXTRACTS OF PATIENTS WITH HEREDITARY FRUCTOSE INTOLERANCEGITZELMANN R; STEINMANN B; BALLY C et al.1974; BIOCHEM. BIOPHYS. RES. COMMUNIC.; U.S.A.; DA. 1974; VOL. 59; NO 4; PP. 1270-1277; BIBL. 27 REF.Article

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

Patients with hereditary fructose intolerance have normal erythrocyte aldolase activityGITZELMANN, R; TEINMANN, B; TUCHSCHMID, P et al.Clinica chimica acta. 1989, Vol 181, Num 2, pp 163-166, issn 0009-8981, 4 p.Article

EHLERS-DANLOS SYNDROME IN TWO SIBLINGS WITH DEFICIENT LYSYL HYDROXYLASE ACTIVITY IN CULTURED SKIN FIBROBLASTS BUT ONLY MILD HYDROXYLYSINE DEFICIT IN SKIN = UN SYNDROME D'EHLERS-DANLOS DANS UN MEME PATRIE AVEC UNE ACTIVITE FAIBLE EN LYSYL-HYDROXYLASE DANS LES FIBROBLASTES CUTANES EN CULTURE MAIS AVEC SEULEMENT UN FAIBLE DEFICIT EN HYDROXYLYSINE DE LA PEAUSTEINMANN B; GITZELMANN R; VOGEL A et al.1975; HELV. PAEDIATR. ACTA; SUISSE; DA. 1975; VOL. 30; NO 3; PP. 255-274; ABS. ALLEM. FR.; BIBL. 36 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