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kw.\*:("Cystinose")

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CystinosisTHOENE, J. G.Journal of inherited metabolic disease. 1995, Vol 18, Num 4, pp 380-386, issn 0141-8955Conference Paper

CYSTINOSIS: A CASE REPORT.SUNDARAVALLI N; RANGANATHAN G; BALAGOPAL RAJU V et al.1975; INDIAN PEDIATR.; INDIA; DA. 1975; VOL. 12; NO 4; PP. 355-357; BIBL. 13 REF.Article

CYSTINOSIS. (A CASE REPORT) = LA CYSTINOSE. (LE RAPPORT D'UN CAS)EDIBAM B.1972; INDIAN PEDIATR.; INDIA; DA. 1972; VOL. 9; NO 2; PP. 117-118; BIBL. 10 REF.Serial Issue

ACCUMULATION OF CYSTINE FROM GLUTATHIONE-CYSTEINE MIXED DISULFIDE IN CYSTINOTIC FIBROBLASTS; BLOCKADE BY AN INHIBITOR OF GAMMA -GLUTAMYL TRANSPEPTIDASEBUTLER J; SPIELBERG SP.1982; LIFE SCIENCES(1973); ISSN 0024-3205; GBR; DA. 1982; VOL. 31; NO 23; PP. 2563-2570; BIBL. 19 REF.Article

THE EFFECT OF CHLOROQUINE ON THE METABOLISM OF (35S) CYSTINE IN NORMAL AND CYSTINOTIC HUMAN SKIN FIBROBLASTSDANPURE CJ.1981; BIOCHEM. J. (LOND.); ISSN 0006-2936; GBR; DA. 1981; VOL. 200; NO 3; PP. 555-563; BIBL. 30 REF.Article

FORME INFANTILE DE LA CYSTINOSEKANABUS I; TRZEBINSKI A; DYSZY LAUBE B et al.1972; PEDIATR. POLSKA; POLSKA; DA. 1972; VOL. 47; NO 5; PP. 613-620; ABS. RUSSE ANGL.Serial Issue

NETZHAUTVERAENDERUNGEN BEI ZYSTINOSE = LESIONS RETINIENNES DANS LA CYSTINOSERICHARD G; KROLL P.1983; OPHTHALMOLOGICA (BASEL); ISSN 0030-3755; CHE; DA. 1983; VOL. 186; NO 4; PP. 211-218; ABS. FRE; BIBL. 1 P.Article

CYSTINOTIC AND NORMAL FIBROBLASTS: DIFFERENTIAL PROTECTION IN CYSTINE-FREE MEDIUM BY DITHIOTHREITOLLANCASTER GA; SCRIVER CR.1981; PEDIATR. RES.; ISSN 0031-3998; USA; DA. 1981; VOL. 16; NO 1; PP. 86-87; BIBL. 24 REF.Article

ENZYMIC REDUCTION OF CYSTINE BY SUBCELLULAR FRACTIONS OF CULTURED AND PERIPHERAL LEUKOCYTES FROM NORMAL AND CYSTINOTIC INDIVIDUALS = REDUCTION ENZYMATIQUE DE LA CYSTINE PAR DES FRACTIONS SUBCELLULAIRES DE LEUCOCYTES CHEZ DES INDIVIDUS NORMAUX ET SOUFFRANT DE CYSTINOSETIETZE F; BRADLEY KH; SCHULMAN JD et al.1972; PEDIATR. RES.,; U.S.A.; DA. 1972; VOL. 6; NO 8; PP. 649-658; BIBL. 47 REF.Serial Issue

QUANTITATION OF CYST(E)INE IN HUMAN FIBROBLASTS AND SEPARATION OF CYSTEINESULFINIC ACID, CYSTEIC ACID AND TAURINESTATES B; SEGAL S.1973; CLIN. CHIM. ACTA,; PAYS-BAS; DA. 1973; VOL. 43; NO 1; PP. 49-53; BIBL. 10REF.Serial Issue

Course of nephropathic cystinosis after age 10 yearsGAHL, W. A; SCHNEIDER, J. A; THOENE, J. G et al.The Journal of pediatrics. 1986, Vol 109, Num 4, pp 605-608, issn 0022-3476Article

Cystinosis presenting with features suggesting Bartter syndromeWHYTE, M. P; SUDAH SHAHEB; SCHNAPER, H. W et al.Clinical pediatrics. 1985, Vol 24, Num 8, pp 447-451, issn 0009-9228Article

La cystéamine dans le traitement de la cystinose infantile. Etudes in vitro et in vivo = Infantile cystinosis treated by cysteamine. Studies in vitro and in vivoLOUIS, J.-J; GUIBAUD, P; DUMOULIN, R et al.Pédiatrie (Marseille). 1984, Vol 39, Num 8, pp 619-633, issn 0031-4021Article

UPTAKE OF CYSTINE BY CYSTINE-DEPLETED FIBROBLASTS FROM PATIENTS WITH CYSTINOSISSTATES B; LEE J; SEGAL S et al.1981; BIOCHEM. BIOPHYS. RES. COMMUN.; ISSN 0006-291X; USA; DA. 1981; VOL. 98; NO 1; PP. 290-296; BIBL. 15 REF.Article

ORAL MANIFESTATIONS OF CYSTINOSIS = MANIFESTATIONS BUCCALES DE LA CYSTINOSEMAMOUN NAZIF; MAZLOUM OSMAN.1973; ORAL SURG. ORAL MED. ORAL PATHOL.; U.S.A.; DA. 1973; VOL. 35; NO 3; PP. 330-338; BIBL. 12 REF.Serial Issue

AUTOMATED MICROANALYSIS OF SULFUR CONTAINING AMINO ACIDS AND THEIR DERIVATIVESBOWIE L; CRAWHALL JC; GOCHMAN N et al.1976; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1976; VOL. 68; NO 3; PP. 349-353; BIBL. 8 REF.Article

RENAL TRANSPLANTATION IN CYSTINOSISLAWSON RK; TALWALKAR YB; HODGES CV et al.1975; J. UROL.; U.S.A.; DA. 1975; VOL. 113; NO 4; PP. 552-554; BIBL. 2REF.Article

LA CYSTINOSE DE L'ENFANT.BROYER M.1977; REV. PEDIATR.; FR.; DA. 1977; VOL. 13; NO 8; PP. 449-454 (5P.); ABS. ANGL.; BIBL. 9 REF.Article

ATTEINTES THYROIDIENNES AU COURS DE LA CYSTINOSECZERNICHOV P; LENOIR G; ROY MP et al.1978; ARCH. FR. PEDIATR.; FRA; DA. 1978; VOL. 35; NO 9; PP. 930-938; ABS. ENG; BIBL. 5 REF.Article

THE PROXIMAL TUBULE AND THE PODOCYTE IN CYSTINOSIS = LE TUBULE PROXIMAL ET LE PODOCYTE DANS LA CYSTINOSESPEAR G.1973; NEPHRON; SUISSE; DA. 1973; VOL. 10; NO 1; PP. 57-60; BIBL. 8REF.Serial Issue

CIRCULATING VITAMIN D METABOLITES IN NEPHROPATHIC CYSTINOSISSTEINHERZ R; CHESNEY RW; SCHULMAN JD et al.1983; JOURNAL OF PEDIATRICS; ISSN 0022-3476; USA; DA. 1983; VOL. 102; NO 4; PP. 592-594; BIBL. 11 REF.Article

CYSTEINE ACTIVATION IN CULTURED CYSTINOTIC CELLS. THE SPECIFIC ACTIVITY OF CYSTEINYL-TRNA SYNTHETASE AND TRNACYS AND THE DETERMINATION OF THE MICHAELIS-MENTEN CONSTANTS FOR CYSTEINYL-TRNA SYNTHETASE = ACTIVATION DE LA CYSTEINE DANS LES CELLULES CYSTINOSIQUES EN CULTURE. ACTIVITE SPECIFIQUE DE LA CYSTEINYL-ARNT SYNTHETASE ET DE L'ARNT CYS ET MESURE DES CONSTANTES DE MICHAELIS-MENTEN POUR LA CYSTEINYL ARNT SYNTHETASEWATERSON JR; WINTER WP; SCHMICKEL RD et al.1974; J. CLIN. INVEST.; U.S.A.; DA. 1974; VOL. 54; NO 1; PP. 182-187; BIBL. 18REF.Article

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite populationRUPAR, C. Anthony; MATSELL, Douglas; SURRY, Susan et al.Journal of medical genetics. 2001, Vol 38, Num 9, pp 615-616, issn 0022-2593Article

Role of slit-lamp biomicroscopy in the diagnosis of cystinosisABEDI, S.Annals of ophthalmology (Birmingham). 1984, Vol 16, Num 17, pp 652-655, issn 0003-4886Article

Altered oxidative metabolism, motility, and adherence in phagocytic cells from cystinotic childrenPINTOS MORELL, G; NIAUDET, P; JEAN, G et al.Pediatric research. 1985, Vol 19, Num 12, pp 1318-1321, issn 0031-3998Article

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