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Results: 1-25 | 26-30
Results: 1-25/30
LOW BETA-GLUCURONIDASE ENZYME-ACTIVITY AND MUTATIONS IN THE HUMAN BETA-GLUCURONIDASE GENE IN MILD MUCOPOLYSACCHARIDOSIS TYPE-VII, PSEUDODEFICIENCY AND A HETEROZYGOTE
Authors: VERVOORT R GITZELMANN R BOSSHARD N MAIRE I LIEBAERS I LISSENS W
Citation: R. Vervoort et al., LOW BETA-GLUCURONIDASE ENZYME-ACTIVITY AND MUTATIONS IN THE HUMAN BETA-GLUCURONIDASE GENE IN MILD MUCOPOLYSACCHARIDOSIS TYPE-VII, PSEUDODEFICIENCY AND A HETEROZYGOTE, Human genetics, 102(1), 1998, pp. 69-78
CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS IN A PATIENT WITH X-LINKED LIVER GLYCOGENOSIS FOLLOWED FOR 40 YEARS
Authors: HENDRICKX J BOSSHARD NU WILLEMS P GITZELMANN R
Citation: J. Hendrickx et al., CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS IN A PATIENT WITH X-LINKED LIVER GLYCOGENOSIS FOLLOWED FOR 40 YEARS, European journal of pediatrics, 157(11), 1998, pp. 919-923
LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)
Authors: BARONE R CARCHON H JANSEN E PAVONE L FIUMARA A BOSSHARD NU GITZELMANN R JAEKEN J
Citation: R. Barone et al., LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY), Journal of inherited metabolic disease, 21(2), 1998, pp. 167-172
MUTATIONS IN THE LIVER-GLYCOGEN SYNTHASE GENE IN CHILDREN WITH HYPOGLYCEMIA DUE TO GLYCOGEN-STORAGE-DISEASE TYPE-0
Authors: ORHO M BOSSHARD NU BUIST NRM GITZELMANN R AYNSLEYGREEN A BLUMEL P GANNON MC NUTTALL FQ GROOP LC
Citation: M. Orho et al., MUTATIONS IN THE LIVER-GLYCOGEN SYNTHASE GENE IN CHILDREN WITH HYPOGLYCEMIA DUE TO GLYCOGEN-STORAGE-DISEASE TYPE-0, The Journal of clinical investigation, 102(3), 1998, pp. 507-515
HYPERGALACTOSEMIA IN A NEWBORN - SELF-LIMITING INTRAHEPATIC PORTOSYSTEMIC VENOUS SHUNT
Authors: GITZELMANN R FORSTER I WILLI UV
Citation: R. Gitzelmann et al., HYPERGALACTOSEMIA IN A NEWBORN - SELF-LIMITING INTRAHEPATIC PORTOSYSTEMIC VENOUS SHUNT, European journal of pediatrics, 156(9), 1997, pp. 719-722
AUTOSOMAL RECESSIVE LIVER PHOSPHORYLASE-KINASE DEFICIENCY CAUSED BY ANOVEL SPLICE-SITE MUTATION IN GENE ENCODING THE LIVER GAMMA-SUBUNIT (PHKG2)
Authors: VANBEURDEN EACM DEGRAAF M WENDEL U GITZELMANN R BERGER R VANDENBERG IET
Citation: Eacm. Vanbeurden et al., AUTOSOMAL RECESSIVE LIVER PHOSPHORYLASE-KINASE DEFICIENCY CAUSED BY ANOVEL SPLICE-SITE MUTATION IN GENE ENCODING THE LIVER GAMMA-SUBUNIT (PHKG2), Biochemical and biophysical research communications, 236(3), 1997, pp. 544-548
IDENTIFICATION OF NOVEL MUTATIONS IN 14 PROBANDS WITH GALACTOKINASE DEFICIENCY
Authors: KOLOSHA V GITZELMANN R LEDEE D DECESPEDES C ANOIA E SKACH W BUIST N SHIH L MITELMANN O TEDESCO T NESBURN K CASCO T SABORIO M TREJOS R STAMBOLIAN D
Citation: V. Kolosha et al., IDENTIFICATION OF NOVEL MUTATIONS IN 14 PROBANDS WITH GALACTOKINASE DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 1480-1480
GAUCHER-DISEASE - 4 FAMILIES WITH PREVIOUSLY UNDESCRIBED MUTATIONS
Authors: BEUTLER E GELBART T BALICKI D DEMINA A ADUSUMALLI J ELSAS L GRINZAID KA GITZELMANN R SUPERTIFURGA A KATTAMIS C LIOU BBH
Citation: E. Beutler et al., GAUCHER-DISEASE - 4 FAMILIES WITH PREVIOUSLY UNDESCRIBED MUTATIONS, Proceedings of the Association of American Physicians, 108(3), 1996, pp. 179-184
ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE
Authors: SUPERTIFURGA A HASTBACKA J WILCOX WR COHN DH VANDERHARTEN HJ ROSSI A BLAU N RIMOIN DL STEINMANN B LANDER ES GITZELMANN R
Citation: A. Supertifurga et al., ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE, Nature genetics, 12(1), 1996, pp. 100-102
PHENOTYPIC AND GENOTYPIC OVERLAP BETWEEN ATELOSTEOGENESIS TYPE-2 AND DIASTROPHIC DYSPLASIA
Authors: ROSSI A VANDERHARTEN HJ BEEMER FA KLEIJER WJ GITZELMANN R STEINMANN B SUPERTIFURGA A
Citation: A. Rossi et al., PHENOTYPIC AND GENOTYPIC OVERLAP BETWEEN ATELOSTEOGENESIS TYPE-2 AND DIASTROPHIC DYSPLASIA, Human genetics, 98(6), 1996, pp. 657-661
LIVER-GLYCOGEN SYNTHASE DEFICIENCY - A RARELY DIAGNOSED ENTITY
Authors: GITZELMANN R SPYCHER MA FEIL G MULLER J SEILNACHT B STAHL M BOSSHARD NU
Citation: R. Gitzelmann et al., LIVER-GLYCOGEN SYNTHASE DEFICIENCY - A RARELY DIAGNOSED ENTITY, European journal of pediatrics, 155(7), 1996, pp. 561-567
MICROCEPHALY AND MATERNAL PHENYLKETONURIA
Authors: SUPERTIFURGA A STEINMANN B DUC G GITZELMANN R
Citation: A. Supertifurga et al., MICROCEPHALY AND MATERNAL PHENYLKETONURIA, European journal of pediatrics, 155(11), 1996, pp. 992-992
SPONTANEOUS MUCOLIPIDOSIS IN A CAT - AN ANIMAL-MODEL OF HUMAN I-CELL DISEASE
Authors: BOSSHARD NU HUBLER M ARNOLD S BRINER J SPYCHER MA SOMMERLADE HJ VONFIGURA K GITZELMANN R
Citation: Nu. Bosshard et al., SPONTANEOUS MUCOLIPIDOSIS IN A CAT - AN ANIMAL-MODEL OF HUMAN I-CELL DISEASE, Veterinary pathology, 33(1), 1996, pp. 1-13
A CHONDRODYSPLASIA FAMILY PRODUCED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE - GENOTYPE PHENOTYPE CORRELATIONS/
Authors: SUPERTIFURGA A ROSSI A STEINMANN B GITZELMANN R
Citation: A. Supertifurga et al., A CHONDRODYSPLASIA FAMILY PRODUCED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE - GENOTYPE PHENOTYPE CORRELATIONS/, American journal of medical genetics, 63(1), 1996, pp. 144-147
ADULT FORM OF G(M2) GANGLIOSIDOSIS - 3 SI BLINGS WITH HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY (SANDHOFF DISEASE) AND REVIEW OF THELITERATURE
Authors: SCHNORF H BOSSHARD NU GITZELMANN R SPYCHER MA ISLER P WAESPE W
Citation: H. Schnorf et al., ADULT FORM OF G(M2) GANGLIOSIDOSIS - 3 SI BLINGS WITH HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY (SANDHOFF DISEASE) AND REVIEW OF THELITERATURE, Schweizerische medizinische Wochenschrift, 126(18), 1996, pp. 757-764
MUCOLIPIDOSIS TYPE-II IN A DOMESTIC SHORTHAIR CAT
Authors: HUBLER M HASKINS ME ARNOLD S KASERHOTZ B BOSSHARD NU BRINER J SPYCHER MA GITZELMANN R SOMMERLADE HJ VONFIGURA K
Citation: M. Hubler et al., MUCOLIPIDOSIS TYPE-II IN A DOMESTIC SHORTHAIR CAT, Journal of Small Animal Practice, 37(9), 1996, pp. 435-441
GALACTOSEMIA - PREFACE
Authors: GITZELMANN R STEINMANN B
Citation: R. Gitzelmann et B. Steinmann, GALACTOSEMIA - PREFACE, European journal of pediatrics, 154(7), 1995, pp. 1-1
PARTIAL DEFICIENCY OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE
Authors: GITZELMANN R BOSSHARD NU
Citation: R. Gitzelmann et Nu. Bosshard, PARTIAL DEFICIENCY OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE, European journal of pediatrics, 154(7), 1995, pp. 40-44
GALACTOSE-1-PHOSPHATE IN THE PATHOPHYSIOLOGY OF GALACTOSEMIA
Authors: GITZELMANN R
Citation: R. Gitzelmann, GALACTOSE-1-PHOSPHATE IN THE PATHOPHYSIOLOGY OF GALACTOSEMIA, European journal of pediatrics, 154(7), 1995, pp. 45-49
GALACTOSEMIA - CONCLUDING REMARKS
Authors: SEGAL S GITZELMANN R STEINMANN B SCHWEITZER S ULLRICH K
Citation: S. Segal et al., GALACTOSEMIA - CONCLUDING REMARKS, European journal of pediatrics, 154(7), 1995, pp. 106-106
A GLYCINE-375-TO-CYSTEINE SUBSTITUTION IN THE TRANSMEMBRANE DOMAIN OFTHE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN A NEWBORN WITH ACHONDROPLASIA
Authors: SUPERTIFURGA A EICH G BUCHER HU WISSER J GIEDION A GITZELMANN R STEINMANN B
Citation: A. Supertifurga et al., A GLYCINE-375-TO-CYSTEINE SUBSTITUTION IN THE TRANSMEMBRANE DOMAIN OFTHE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN A NEWBORN WITH ACHONDROPLASIA, European journal of pediatrics, 154(3), 1995, pp. 215-219
EARLY AND SEVERE SENSORY LOSS IN 3 ADULT SIBLINGS WITH HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY (SANDHOFF-DISEASE)
Authors: SCHNORF H GITZELMANN R BOSSHARD NU SPYCHER M WAESPE W
Citation: H. Schnorf et al., EARLY AND SEVERE SENSORY LOSS IN 3 ADULT SIBLINGS WITH HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY (SANDHOFF-DISEASE), Journal of Neurology, Neurosurgery and Psychiatry, 59(5), 1995, pp. 520-523
DEFECTIVE SULFATION OF PROTEOGLYCANS IN ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DTDST GENE - THE DISORDER IS ALLELIC TO DIASTROPHIC DYSPLASIA
Authors: SUPERTIFURGA A HASTBACKA J COHN DH WILCOX W VANDERHARTEN HJ RIMOIN DL LANDER S STEINMANN B GITZELMANN R
Citation: A. Supertifurga et al., DEFECTIVE SULFATION OF PROTEOGLYCANS IN ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DTDST GENE - THE DISORDER IS ALLELIC TO DIASTROPHIC DYSPLASIA, American journal of human genetics, 57(4), 1995, pp. 243-243
FELINE MUCOPOLYSACCHARIDOSIS-VII DUE TO BETA-GLUCURONIDASE DEFICIENCY
Authors: GITZELMANN R BOSSHARD NU SUPERTIFURGA A SPYCHER MA BRINER J WIESMANN U LUTZ H LITSCHI B
Citation: R. Gitzelmann et al., FELINE MUCOPOLYSACCHARIDOSIS-VII DUE TO BETA-GLUCURONIDASE DEFICIENCY, Veterinary pathology, 31(4), 1994, pp. 435-443
CHANGES OF LIVER METABOLITE CONCENTRATIONS IN ADULTS WITH DISORDERS OF FRUCTOSE METABOLISM AFTER INTRAVENOUS FRUCTOSE BY P-31 MAGNETIC-RESONANCE SPECTROSCOPY
Authors: BOESIGER P BUCHLI R MEIER D STEINMANN B GITZELMANN R
Citation: P. Boesiger et al., CHANGES OF LIVER METABOLITE CONCENTRATIONS IN ADULTS WITH DISORDERS OF FRUCTOSE METABOLISM AFTER INTRAVENOUS FRUCTOSE BY P-31 MAGNETIC-RESONANCE SPECTROSCOPY, Pediatric research, 36(4), 1994, pp. 436-440
Risultati: 1-25 | 26-30