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Results: 1-25 | 26-34
Results: 1-25/34
ADENOVIRUS-MEDIATED GENE-TRANSFER RESULTS IN DECREASED LYSOSOMAL STORAGE IN BRAIN AND TOTAL CORRECTION IN LIVER OF ASPARTYLGLUCOSAMINURIA (AGU) MOUSE
Authors: PELTOLA M KYTTALA A HEINONEN O RAPOLA J PAUNIO T REVAH F PELTONEN L JALANKO A
Citation: M. Peltola et al., ADENOVIRUS-MEDIATED GENE-TRANSFER RESULTS IN DECREASED LYSOSOMAL STORAGE IN BRAIN AND TOTAL CORRECTION IN LIVER OF ASPARTYLGLUCOSAMINURIA (AGU) MOUSE, Gene therapy, 5(10), 1998, pp. 1314-1321
MICE WITH AN ASPARTYLGLUCOSAMINURIA MUTATION SIMILAR TO HUMANS REPLICATE THE PATHOPHYSIOLOGY IN PATIENTS
Authors: JALANKO A TENHUNEN K MCKINNEY CE LAMARCA ME RAPOLA J AUTTI T JOENSUU R MANNINEN T SIPILA I IKONEN S RIEKKINEN P GINNS EI PELTONEN L
Citation: A. Jalanko et al., MICE WITH AN ASPARTYLGLUCOSAMINURIA MUTATION SIMILAR TO HUMANS REPLICATE THE PATHOPHYSIOLOGY IN PATIENTS, Human molecular genetics, 7(2), 1998, pp. 265-272
PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY
Authors: ZERRES K MUCHER G BECKER J STEINKAMM C RUDNIKSCHONEBORN S HEIKKILA P RAPOLA J SALONEN R GERMINO GG ONUCHIC L SOMLO S AVNER ED HARMAN LA STOCKWIN JM GUAYWOODFORD LM
Citation: K. Zerres et al., PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY, American journal of medical genetics, 76(2), 1998, pp. 137-144
IRON-OVERLOAD DISEASE IN INFANTS INVOLVING FETAL GROWTH-RETARDATION, LACTIC-ACIDOSIS, LIVER HEMOSIDEROSIS, AND AMINOACIDURIA
Authors: FELLMAN V RAPOLA J PIHKO H VARILO T RAIVIO KO
Citation: V. Fellman et al., IRON-OVERLOAD DISEASE IN INFANTS INVOLVING FETAL GROWTH-RETARDATION, LACTIC-ACIDOSIS, LIVER HEMOSIDEROSIS, AND AMINOACIDURIA, Lancet, 351(9101), 1998, pp. 490-493
ATYPICAL JUVENILE NEURONAL CEROID LIPOSFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSIT-LIKE INCLUSIONS IN THE AUTONOMIC NERVE-CELLS OF THE GUTWALL
Authors: ABERG L JARVELA I RAPOLA J AUTTI T KIRVESKARI E LAPPI M SIPILA L SANTAVUORI P
Citation: L. Aberg et al., ATYPICAL JUVENILE NEURONAL CEROID LIPOSFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSIT-LIKE INCLUSIONS IN THE AUTONOMIC NERVE-CELLS OF THE GUTWALL, Acta Neuropathologica, 95(3), 1998, pp. 306-312
PATHOLOGY OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION
Authors: TYNI T RAPOLA J PAETAU A PALOTIE A PIHKO H
Citation: T. Tyni et al., PATHOLOGY OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION, PEDIATRIC PATHOLOGY & LABORATORY MEDICINE, 17(3), 1997, pp. 427-447
BONE-MARROW TRANSPLANTATION IN ASPARTYLGLUCOSAMINURIA
Authors: AUTTI T SANTAVUORI P RAININKO R RENLUND M RAPOLA J SAARINENPIHKALA U
Citation: T. Autti et al., BONE-MARROW TRANSPLANTATION IN ASPARTYLGLUCOSAMINURIA, Lancet, 349(9062), 1997, pp. 1366-1367
HYPOPARATHYROIDISM IN A PATIENT WITH LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION
Authors: TYNI T RAPOLA J PALOTIE A PIHKO H
Citation: T. Tyni et al., HYPOPARATHYROIDISM IN A PATIENT WITH LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION, The Journal of pediatrics, 131(5), 1997, pp. 766-768
KNOCK-OUT MOUSE MODEL FOR HUMAN ASPARTYLGLUCOSAMINURIA CLOSELY RESEMBLES THE HUMAN-DISEASE
Authors: TENHUNEN K JALANKO A MCKINNEY CE LAMARCA ME AUTTI T RAPOLA J GINNS EI PELTONEN L
Citation: K. Tenhunen et al., KNOCK-OUT MOUSE MODEL FOR HUMAN ASPARTYLGLUCOSAMINURIA CLOSELY RESEMBLES THE HUMAN-DISEASE, American journal of human genetics, 61(4), 1997, pp. 1528-1528
PATHOLOGY OF SKELETAL-MUSCLE AND IMPAIRED RESPIRATORY-CHAIN FUNCTION IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY WITH THE G1528C MUTATION
Authors: TYNI T MAJANDER A KALIMO H RAPOLA J PIHKO H
Citation: T. Tyni et al., PATHOLOGY OF SKELETAL-MUSCLE AND IMPAIRED RESPIRATORY-CHAIN FUNCTION IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY WITH THE G1528C MUTATION, Neuromuscular disorders, 6(5), 1996, pp. 327-337
IN-VIVO PURGING OF BONE-MARROW IN CHILDREN WITH POOR-RISK NEUROBLASTOMA FOR MARROW COLLECTION AND AUTOLOGOUS BONE-MARROW TRANSPLANTATION
Authors: SAARINEN UM WIKSTROM S MAKIPERNAA A LANNING M PERKKIO M HOVI L RAPOLA J SARIOLA H
Citation: Um. Saarinen et al., IN-VIVO PURGING OF BONE-MARROW IN CHILDREN WITH POOR-RISK NEUROBLASTOMA FOR MARROW COLLECTION AND AUTOLOGOUS BONE-MARROW TRANSPLANTATION, Journal of clinical oncology, 14(10), 1996, pp. 2791-2802
POSTMARATHON PARADOX - INSULIN-RESISTANCE IN THE FACE OF GLYCOGEN DEPLETION
Authors: TUOMINEN J EBELING P BOUREY R KORANYI L LAMMINEN A RAPOLA J SANE T VUORINENMARKKOLA H KOIVISTO VA
Citation: J. Tuominen et al., POSTMARATHON PARADOX - INSULIN-RESISTANCE IN THE FACE OF GLYCOGEN DEPLETION, American journal of physiology: endocrinology and metabolism, 33(2), 1996, pp. 336-343
PRENATAL-DIAGNOSIS OF BATTENS DISEASE
Authors: MUNROE PB RAPOLA J MITCHISON HM MUSTONEN A MOLE SE GARDINER RM JARVELA I
Citation: Pb. Munroe et al., PRENATAL-DIAGNOSIS OF BATTENS DISEASE, Lancet, 347(9007), 1996, pp. 1014-1015
TREATMENT WITH HUMAN CHORIONIC-GONADOTROPIN FOR CRYPTORCHIDISM - CLINICAL AND HISTOLOGICAL EFFECTS
Authors: KALEVA M ARSALO A LOUHIMO I RAPOLA J PERHEENTUPA J HENRIKSEN K TOPPARI J
Citation: M. Kaleva et al., TREATMENT WITH HUMAN CHORIONIC-GONADOTROPIN FOR CRYPTORCHIDISM - CLINICAL AND HISTOLOGICAL EFFECTS, International journal of andrology, 19(5), 1996, pp. 293-298
APOPTOTIC CELL-DEATH IN THE NORMAL AND CRYPTORCHID HUMAN TESTIS - THEEFFECT OF HUMAN CHORIONIC-GONADOTROPIN ON TESTICULAR CELL-SURVIVAL
Authors: HEISKANEN P BILLIG H TOPPARI J KALEVA M ARSALO A RAPOLA J DUNKEL L
Citation: P. Heiskanen et al., APOPTOTIC CELL-DEATH IN THE NORMAL AND CRYPTORCHID HUMAN TESTIS - THEEFFECT OF HUMAN CHORIONIC-GONADOTROPIN ON TESTICULAR CELL-SURVIVAL, Pediatric research, 40(2), 1996, pp. 351-356
ALPHA-ACTININ IN NEMALINE BODIES IN CONGENITAL NEMALINE MYOPATHY - IMMUNOLOGICAL CONFIRMATION BY LIGHT AND ELECTRON-MICROSCOPY
Authors: WALLGRENPETTERSSON C JASANI B NEWMAN GR MORRIS GE JONES S SINGHRAO S CLARKE A VIRTANEN I HOLMBERG C RAPOLA J
Citation: C. Wallgrenpettersson et al., ALPHA-ACTININ IN NEMALINE BODIES IN CONGENITAL NEMALINE MYOPATHY - IMMUNOLOGICAL CONFIRMATION BY LIGHT AND ELECTRON-MICROSCOPY, Neuromuscular disorders, 5(2), 1995, pp. 93-104
EVOLUTION OF GLOMERULAR-BASEMENT-MEMBRANE CHANGES IN CHRONIC REJECTION
Authors: YILMAZ A YILMAZ S KALLIO E RAPOLA J HAYRY P
Citation: A. Yilmaz et al., EVOLUTION OF GLOMERULAR-BASEMENT-MEMBRANE CHANGES IN CHRONIC REJECTION, Transplantation, 60(11), 1995, pp. 1314-1322
CORRELATION BETWEEN THE CLINICAL SYMPTOMS AND THE PROPORTION OF MITOCHONDRIAL-DNA CARRYING THE 8993-POINT MUTATION IN THE NARP SYNDROME
Authors: MAKELABENGS P SUOMALAINEN A MAJANDER A RAPOLA J KALIMO H NUUTILA A PIHKO H
Citation: P. Makelabengs et al., CORRELATION BETWEEN THE CLINICAL SYMPTOMS AND THE PROPORTION OF MITOCHONDRIAL-DNA CARRYING THE 8993-POINT MUTATION IN THE NARP SYNDROME, Pediatric research, 37(5), 1995, pp. 634-639
MUTATIONS IN THE PALMITOYL PROTEIN THIOESTERASE GENE CAUSING INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS
Authors: VESA J HELLSTEN E VERKRUYSE LA CAMP LA RAPOLA J SANTAVUORI P HOFMANN SL PELTONEN L
Citation: J. Vesa et al., MUTATIONS IN THE PALMITOYL PROTEIN THIOESTERASE GENE CAUSING INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, Nature, 376(6541), 1995, pp. 584-587
DIAGNOSIS OF FATAL INFANTILE DEFECTS OF THE MITOCHONDRIAL RESPIRATORY-CHAIN - AGE-DEPENDENCE AND POSTMORTEM ANALYSIS OF ENZYME-ACTIVITIES
Authors: MAJANDER A RAPOLA J SARIOLA H SUOMALAINEN A POHJAVUORI M PIHKO H
Citation: A. Majander et al., DIAGNOSIS OF FATAL INFANTILE DEFECTS OF THE MITOCHONDRIAL RESPIRATORY-CHAIN - AGE-DEPENDENCE AND POSTMORTEM ANALYSIS OF ENZYME-ACTIVITIES, Journal of the neurological sciences, 134(1-2), 1995, pp. 95-102
OSTEITIS CAUSED BY BACILLE CALMETTE-GUERIN VACCINATION - A RETROSPECTIVE ANALYSIS OF 222 CASES
Authors: KROGER L KORPPI M BRANDER E KROGER H WASZHOCKERT O BACKMAN A RAPOLA J LAUNIALA K KATILA ML
Citation: L. Kroger et al., OSTEITIS CAUSED BY BACILLE CALMETTE-GUERIN VACCINATION - A RETROSPECTIVE ANALYSIS OF 222 CASES, The Journal of infectious diseases, 172(2), 1995, pp. 574-576
GLOMERULAR ANIONIC CHARGE IN CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE (VOL 27, PG 536, 1995)
Authors: LJUNGBERG P RAPOLA J HOLMBERG C HOLTHOFER H JALANKO H
Citation: P. Ljungberg et al., GLOMERULAR ANIONIC CHARGE IN CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE (VOL 27, PG 536, 1995), Histochemical Journal, 27(9), 1995, pp. 724-724
GLOMERULAR ANIONIC CHARGE IN CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE
Authors: LJUNGBERG P RAPOLA J HOLMBERG C HOLTHOFER H JALANKO H
Citation: P. Ljungberg et al., GLOMERULAR ANIONIC CHARGE IN CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE, Histochemical Journal, 27(7), 1995, pp. 536-546
PATHOLOGY OF RENAL-ARTERIES OF DYSLIPIDEMIC CHILDREN WITH CONGENITAL NEPHROSIS
Authors: ANTIKAINEN M SARIOLA H RAPOLA J TASKINEN MR HOLTHOFER H HOLMBERG C
Citation: M. Antikainen et al., PATHOLOGY OF RENAL-ARTERIES OF DYSLIPIDEMIC CHILDREN WITH CONGENITAL NEPHROSIS, APMIS. Acta pathologica, microbiologica et immunologica Scandinavica, 102(2), 1994, pp. 129-134
LYSOSOMAL STORAGE DISEASES IN ADULTS
Authors: RAPOLA J
Citation: J. Rapola, LYSOSOMAL STORAGE DISEASES IN ADULTS, Pathology research and practice, 190(8), 1994, pp. 759-766
Risultati: 1-25 | 26-34