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kw.\*:("MUCOPOLYSACCHARIDOSE HUNTER")

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Results 1 to 25 of 179

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UN CAS DE MUCOPOLYSACCHARIDOSE II - SYNDROME DE HUNTERWALCZAK M; PAWLACZYK B; SIODA T et al.1976; PEDIATR. POLSKA; POLSKA; DA. 1976; VOL. 51; NO 1; PP. 77-80; BIBL. 20 REF.Article

MUCOPOLYSACCHARIDOSES. RELATION OF ELEVATED CEREBRAL SPINAL FLUID TO MENTAL RETARDATION = MUCOPOLYSACCHARIDOSES: RELATION ENTRE TAUX ELEVES DANS LE LCR ET RETARD MENTALDEKABAN AS; CONSTANTOPOULOS G.1973; ARCH. NEUROL.; U.S.A.; DA. 1973; VOL. 28; NO 6; PP. 385-388; BIBL. 25 REF.Article

INEFFICACY OF FRESH FROZEN PLASMA THERAPY OF MUCOPOLYSACCHARIDOSIS II = INEFFICACITE DU TRAITEMENT DE LA MUCOPOLYSACCHARIDOSE II PAR LE PLASMA FRAIS CONGELEERICKSON RP; SANDMAN R; ROBERTSON WV et al.1972; PEDIATRICS; U.S.A.; DA. 1972; VOL. 50; NO 5; PP. 693-701; BIBL. 1P.Serial Issue

RELIABILITY OF THE BOOTH-NADLER TECHNIQUE FOR THE DETECTION OF HUNTER HETEROZYGOTES = FIABILITE DE LA TECHNIQUE DE BOOTH-NADLER POUR LA DETECTION DES HETEROZYGOTES DU HUNTERDONNELLY PV; DI FERRANTE N.1975; PEDIATRICS; U.S.A.; DA. 1975; VOL. 56; NO 3; PP. 429-433; BIBL. 7 REF.Article

MULTIPLE PERIPHERAL NERVE ENTRAPMENTS. AN UNUSUAL PHENOTYPICAL VARIANT OF THE HUNTER SYNDROME (MUCOPOLYSACCHARIDOSIS II) IN A FAMILY = COMPRESSIONS MULTIPLES DE NERFS PERIPHERIQUES. VARIANTE PHENOTYPIQUE RARE DU SYNDROME DE HUNTER FAMILIAL (MUCOPOLYSACCHARIDOSE DU TYPE II)KARPATI G; CARPENTER S; EISEN AA et al.1974; ARCH. NEUROL.; U.S.A.; DA. 1974; VOL. 31; NO 6; PP. 418-422; BIBL. 20REF.Article

THE HUNTER CORRECTIVE FACTOR: PURIFICATION AND PRELIMINARY CHARACTERIZATIONCANTZ M; CHRAMBACH A; BACH G et al.1972; J. BIOL. CHEM.; U.S.A.; DA. 1972; VOL. 247; NO 17; PP. 5456-5462; BIBL. 29REF.Serial Issue

LA MALADIE DE HUNTER. ( A PROPOS D'UNE OBSERVATION)FEMEL BURGAN SONIA.1980; ; FRA; DA. 1980; 24; 131-XVIII P.: ILL.; 30 CM; BIBL. 142 REF.; TH.: MED./ROUEN/1980Thesis

A CUTANEOUS MARKER IN THE HUNTER SYNDROME. A REPORT OF FOUR CASES.PRYSTOWSKY SD; MAUMENEE IH; FREEMAN RG et al.1977; ARCH. DERMATOL.; U.S.A.; DA. 1977; VOL. 113; NO 5; PP. 602-605; BIBL. 15 REF.Article

COMMUNICATING HYDROCEPHALUS IN CHILDREN WITH GENETIC IN BORN ERRORS OF METABOLISM = HYDROCEPHALIE COMMUNICANTE CHEZ LES ENFANTS AVEC ERREURS INNEES DU METABOLISMEFOWLER GW; SUKOFF M; HAMILTON A et al.1975; CHILD'S BRAIN; SWITZ.; DA. 1975; VOL. 1; NO 4; PP. 251-254; BIBL. 10 REF.Article

ACCUMULATION OF SULFATE-CONTAINING ACID MUCOPOLYSACCHARIDES IN I-CELL FIBROBLASTS. = ACCUMULATION DE MUCOPOLYSACCHARIDES ACIDES SULFATES DANS LES CELLULES FIBROBLASTIQUES ISCHMICKEL RD; DISTLER JJ; JOURDIAN GW et al.1975; J. LAB. CLIN. MED.; U.S.A.; DA. 1975; VOL. 86; NO 4; PP. 672-682; BIBL. 31 REF.Article

THE ULTRASTRUCTURE OF THE SKIN IN PATIENTS WITH MUCOPOLYSACCHARIDOSES = L'ULTRASTRUCTURE DE LA PEAU DES SUJETS ATTEINTS DE MUCOPOLYSACCHARIDOSESSPICER SS; GARVIN AJ; WOHLTMANN HJ et al.1974; LAB. INVEST.; U.S.A.; DA. 1974; VOL. 31; NO 5; PP. 488-501; BIBL. 42REF.Article

EFFECTS OF FRESH PLASMA OR WHOLE BLOOD TRANSFIONS ON PATIENTS WITH VARIOUS TYPES OF MUCOPOLYSACCHARIDOSIS = EFFETS DES TRANSFUSIONS DE PLASMA FRAIS OU DE SANG TOTAL SUR LES MALADES ATTEINTS DE DIVERS TYPES DE MUCOPOLYSACCHARIDOSEDEKABAN AS; HOLDEN KR; CONSTANTOPOULOS G et al.1972; PEDIATRICS; U.S.A.; DA. 1972; VOL. 50; NO 5; PP. 688-692; BIBL. 12REF.Serial Issue

GARGOYLISM IN A CHINESE BOY = GARGOILISME CHEZ UN GARCON CHINOISMING TSO TSUANG; HSIN YIH CHANG; ENG KUNG YEH et al.1970; J. MED. GENET.; G.B.; DA. 1970; VOL. 7; NO 4; PP. 422-425; BIBL. 5 REF.Serial Issue

Carrier detection in Hunter syndromeARCHER, I. M; YOUNG, I. D; REES, D. W et al.American journal of medical genetics. 1983, Vol 16, Num 1, pp 61-69, issn 0148-7299Article

AN IMPROVED ASSAY FOR IDURONATE 2-SULPHATE SULPHATASE IN SERUM AND ITS USE IN THE DETECTION OF CARRIERS OF THE HUNTER SYNDROMEARCHER IM; HARPER PS; WUSTEMAN FS et al.1981; CLIN. CHIM. ACTA; ISSN 0009-8981; NLD; DA. 1981; VOL. 112; NO 1; PP. 107-112; BIBL. 9 REF.Article

INCREASED BREAKDOWN OF GLYCOSAMINOGLYCANS AND APPEARANCE OF CORRECTIVE ENZYME AFTER SKIN TRANSPLANTS IN HUNTER SYNDROME = AUGMENTATION DE LA DEGRADATION DES GLYCOSAMINOGLYCANES ET APPARITION D'ENZYME CORRECTIVE APRES TRANSPLANTS DE PEAU DANS LE SYNDROME DE HUNTERDEAN MF; MUIR H; BENSON PF et al.1975; NATURE; G.B.; DA. 1975; VOL. 257; NO 5527; PP. 609-612; BIBL. 16 REF.Article

DETECTION OF HUNTER HETEROZYGOTES BY ENZYMATIC ANALYSIS OF HAIR ROOTSNWOKORO N; NEUFELD EF.1979; AMER. J. HUM. GENET.; USA; DA. 1979; VOL. 31; NO 1; PP. 42-49; BIBL. 26 REF.Article

ENZYME REPLACEMENT THERAPY BY FIBROBLAST TRANSPLANTATION: LONG-TERM BIOCHEMICAL STUDY IN THREE CASES OF HUNTER'S SYNDROMEDEAN MF; STEVENS RL; MUIR H et al.1979; J. CLIN. INVEST.; USA; DA. 1979; VOL. 63; NO 1; PP. 138-146; BIBL. 44 REF.Article

IDORUNATE SULFATASE ANALYSIS OF HAIR ROOTS FOR IDENTIFICATION OF HUNTER SYNDROME HETEROZYGOTESYUTAKA T; FLUHARTY AL; STEVENS RL et al.1978; AMER. J. HUM. GENET.; USA; DA. 1978; VOL. 30; NO 6; PP. 575-582; BIBL. 20 REF.Article

MOLECULAR SIZE DIFFERENCE OF URINARY HEPARAN SULFATES FROM NORMAL INDIVIDUALS AND GENETIC MUCOPOLY-SACCHARIDOSES. = DIFFERENCE DE DIAMETRE MOLECULAIRE DES SULFATES D'HEPARANE URINAIRES DES SUJETS NORMAUX ET DES MUCOPOLYSACCHARIDOSES GENETIQUESTANIGUCHI N; MIYAWAKI T; MORIYA N et al.1975; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1975; VOL. 60; NO 3; PP. 363-369; BIBL. 23 REF.Article

A FAMILIAL OCCURRENCE OF A MUCOPOLYSACCHARIDOSIS: HURLER'S OR HUNTER'S SYNDROME. = OBSERVATION FAMILIALE D'UNE MUCOPOLYSACCHARISODE: SYNDROME DE HURLER OU DE HUNTER.BHAMBHANI R; SINGH SM; KUSPIRA J et al.1974; HUM. HERED.; SWITZ.; DA. 1974; VOL. 24; NO 2; PP. 219-224; BIBL. 7REF.Article

URINARY EXCRETION OF DISULFATED DISACCHARIDES IN HUNTER SYNDROME: CORRECTION BY INFUSION OF A SERUM FRACTIONCOPPA GV; SINGH J; NICHOLS BL et al.1973; ANAL. LETTERS; U.S.A.; DA. 1973; VOL. 6; NO 3; PP. 225-233; BIBL. 20REF.Article

X-LINKED HUNTER SYNDROME: THE HETEROZYGOUS PHENOTYPE IN CELL CULTURE.MIGEON BR; SPRENKLE JA; LIEBAERS I et al.1977; AMER. J. HUM. GENET.; U.S.A.; DA. 1977; VOL. 29; NO 5; PP. 448-454; BIBL. 17 REF.Article

CLINICAL HETEROGENEITY IN MUCOPOLYSACCHARIDOSIS. II. EVIDENCE FOR EPISTASIS.THURMON TF; DEFRAITES EB; ANDERSON EE et al.1974; BIRTH DEFECTS ORIGIN ARTICLE SER.; U.S.A.; DA. 1974; VOL. 10; NO 8; PP. 125-127; BIBL. 3 REF.Article

TREATMENT OF MUCOPOLYSACCHARIDOSESHUSSELS IE; EIKMAN EA; KENYON KR et al.1974; BIRTH DEFECTS ORIGIN. ARTICLE SER.; U.S.A.; DA. 1974; VOL. 10; NO 12; PP. 212-225; BIBL. 17 REF.Article

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