ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-29

Results: 1-25/29

INHERITED DISORDERS OF FATTY ALCOHOL METABOLISM

Authors: RIZZO WB

Citation: Wb. Rizzo, INHERITED DISORDERS OF FATTY ALCOHOL METABOLISM, Molecular genetics and metabolism ( Molecular genetics and metabolism (Print)), 65(2), 1998, pp. 63-73

PRENATAL-GROWTH AND POSTNATAL-GROWTH RETARDATION, SCALING SKIN, MODERATE MENTAL-RETARDATION AND QUADRISPASTICITY, HYPOSPADIAS GRADE-2 AND HYDRO-URETERO NEPHROSIS, POSTAXIAL POLYDACTYLY - A DISTINCT MCA MR SYNDROME/

Authors: FRYNS JP LAGAE L RIZZO WB

Citation: Jp. Fryns et al., PRENATAL-GROWTH AND POSTNATAL-GROWTH RETARDATION, SCALING SKIN, MODERATE MENTAL-RETARDATION AND QUADRISPASTICITY, HYPOSPADIAS GRADE-2 AND HYDRO-URETERO NEPHROSIS, POSTAXIAL POLYDACTYLY - A DISTINCT MCA MR SYNDROME/, Clinical dysmorphology, 7(4), 1998, pp. 275-277

ISOLATION OF A CHINESE-HAMSTER FIBROBLAST VARIANT DEFECTIVE IN DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE ACTIVITY AND PLASMALOGEN BIOSYNTHESIS - USE OF A NOVEL 2-STEP SELECTION PROTOCOL

Authors: NAGAN N HAJRA AK LARKINS LK LAZAROW P PURDUE PE RIZZO WB ZOELLER RA

Citation: N. Nagan et al., ISOLATION OF A CHINESE-HAMSTER FIBROBLAST VARIANT DEFECTIVE IN DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE ACTIVITY AND PLASMALOGEN BIOSYNTHESIS - USE OF A NOVEL 2-STEP SELECTION PROTOCOL, Biochemical journal, 332, 1998, pp. 273-279

SKELETAL-MUSCLE PHOSPHATIDYLCHOLINE FATTY-ACIDS AND INSULIN SENSITIVITY IN NORMAL HUMANS

Authors: CLORE JN LI J GILL R GUPTA S SPENCER R AZZAM A ZUELZER W RIZZO WB BLACKARD WG

Citation: Jn. Clore et al., SKELETAL-MUSCLE PHOSPHATIDYLCHOLINE FATTY-ACIDS AND INSULIN SENSITIVITY IN NORMAL HUMANS, American journal of physiology: endocrinology and metabolism, 38(4), 1998, pp. 665-670

INVOLVEMENT OF MICROSOMAL FATTY ALDEHYDE DEHYDROGENASE IN THE ALPHA-OXIDATION OF PHYTANIC ACID

Authors: VERHOEVEN NM JAKOBS C CARNEY G SOMERS MP WANDERS RJA RIZZO WB

Citation: Nm. Verhoeven et al., INVOLVEMENT OF MICROSOMAL FATTY ALDEHYDE DEHYDROGENASE IN THE ALPHA-OXIDATION OF PHYTANIC ACID, FEBS letters, 429(3), 1998, pp. 225-228

A COMMON DELETION MUTATION IN EUROPEAN PATIENTS WITH SJOGREN-LARSSON-SYNDROME

Authors: RIZZO WB CARNEY G DELAURENZI V

Citation: Wb. Rizzo et al., A COMMON DELETION MUTATION IN EUROPEAN PATIENTS WITH SJOGREN-LARSSON-SYNDROME, Biochemical and molecular medicine, 62(2), 1997, pp. 178-181

GENOMIC ORGANIZATION AND EXPRESSION OF THE HUMAN FATTY ALDEHYDE DEHYDROGENASE GENE (FALDH)

Authors: ROGERS GR MARKOVA NG DELAURENZI V RIZZO WB COMPTON JG

Citation: Gr. Rogers et al., GENOMIC ORGANIZATION AND EXPRESSION OF THE HUMAN FATTY ALDEHYDE DEHYDROGENASE GENE (FALDH), Genomics, 39(2), 1997, pp. 127-135

HUMAN LIVER FATTY ALDEHYDE DEHYDROGENASE - MICROSOMAL LOCALIZATION, PURIFICATION, AND BIOCHEMICAL-CHARACTERIZATION

Authors: KELSON TL MCVOY JRS RIZZO WB

Citation: Tl. Kelson et al., HUMAN LIVER FATTY ALDEHYDE DEHYDROGENASE - MICROSOMAL LOCALIZATION, PURIFICATION, AND BIOCHEMICAL-CHARACTERIZATION, Biochimica et biophysica acta (G). General subjects, 1335(1-2), 1997, pp. 99-110

PHOSPHOLIPID FATTY-ACID COMPOSITION IN TYPE-I AND TYPE-II RAT MUSCLE

Authors: BLACKARD WG LI J CLORE JN RIZZO WB

Citation: Wg. Blackard et al., PHOSPHOLIPID FATTY-ACID COMPOSITION IN TYPE-I AND TYPE-II RAT MUSCLE, Lipids, 32(2), 1997, pp. 193-198

SJOGREN-LARSSON-SYNDROME IS CAUSED BY A COMMON MUTATION IN NORTHERN EUROPEAN AND SWEDISH PATIENTS

Authors: DELAURENZI V ROGERS GR TARCSA E CARNEY G MAREKOV L BALE SJ COMPTON JG MARKOVA N STEINERT PM RIZZO WB

Citation: V. Delaurenzi et al., SJOGREN-LARSSON-SYNDROME IS CAUSED BY A COMMON MUTATION IN NORTHERN EUROPEAN AND SWEDISH PATIENTS, Journal of investigative dermatology, 109(1), 1997, pp. 79-83

A COMMON MUTATION CAUSES SJOGREN-LARSSON-SYNDROME IN PATIENTS OF NORTHERN EUROPEAN ORIGIN

Authors: DELAURENZI V ROGERS GR TARCSA E CARNEY G MAREKOV LN BALE SJ COMPTON JG MARKOVA NG STEINERT PM RIZZO WB

Citation: V. Delaurenzi et al., A COMMON MUTATION CAUSES SJOGREN-LARSSON-SYNDROME IN PATIENTS OF NORTHERN EUROPEAN ORIGIN, Journal of investigative dermatology, 108(4), 1997, pp. 144-144

SJOGREN-LARSSON SYNDROME IS CAUSED BY MUTATIONS IN THE FATTY ALDEHYDEDEHYDROGENASE GENE

Authors: DELAURENZI V ROGERS GR HAMROCK DJ MAREKOV LN STEINERT PM COMPTON JG MARKOVA N RIZZO WB

Citation: V. Delaurenzi et al., SJOGREN-LARSSON SYNDROME IS CAUSED BY MUTATIONS IN THE FATTY ALDEHYDEDEHYDROGENASE GENE, Nature genetics, 12(1), 1996, pp. 52-57

REDEFINING THE SJOGREN-LARSSON-SYNDROME - ATYPICAL FINDINGS IN 3 SIBLINGS AND IMPLICATIONS REGARDING DIAGNOSIS

Authors: NIGRO JF RIZZO WB ESTERLY NB

Citation: Jf. Nigro et al., REDEFINING THE SJOGREN-LARSSON-SYNDROME - ATYPICAL FINDINGS IN 3 SIBLINGS AND IMPLICATIONS REGARDING DIAGNOSIS, Journal of the American Academy of Dermatology, 35(5), 1996, pp. 678-684

SJOGREN-LARSSON SYNDROME (SLS) IS CAUSED BY MUTATIONS IN THE FATTY ALDEHYDE DEHYDROGENASE GENE

Authors: DELAURENZI V ROGERS GR HAMROCK DJ DELAURENZI F MAREKOV LN COMPTON JG MARKOVA N STEINERT PM RIZZO WB

Citation: V. Delaurenzi et al., SJOGREN-LARSSON SYNDROME (SLS) IS CAUSED BY MUTATIONS IN THE FATTY ALDEHYDE DEHYDROGENASE GENE, Journal of investigative dermatology, 106(4), 1996, pp. 33-33

GENOMIC ORGANIZATION OF THE FATTY ALDEHYDE DEHYDROGENASE GENE FOR DNA-BASED MUTATION ANALYSIS IN SJOGREN-LARRSON SYNDROME

Authors: ROGERS GR DELAURENZI V BALE SJ MARKOVA N RIZZO WB COMPTON JG

Citation: Gr. Rogers et al., GENOMIC ORGANIZATION OF THE FATTY ALDEHYDE DEHYDROGENASE GENE FOR DNA-BASED MUTATION ANALYSIS IN SJOGREN-LARRSON SYNDROME, Journal of investigative dermatology, 106(4), 1996, pp. 589-589

SJOGREN-LARSSON SYNDROME LINKED TO CHROMOSOME-17

Authors: ROGERS GR RIZZO WB LEE MJ COMPTON JG BALE SJ

Citation: Gr. Rogers et al., SJOGREN-LARSSON SYNDROME LINKED TO CHROMOSOME-17, Journal of investigative dermatology, 104(4), 1995, pp. 675-675

GENETIC HOMOGENEITY IN SJOGREN-LARSSON SYNDROME - LINKAGE TO CHROMOSOME 17P IN FAMILIES OF DIFFERENT NON-SWEDISH ETHNIC-ORIGINS

Authors: ROGERS GR RIZZO WB ZLOTOGORSKI A HASHEM N LEE MJ COMPTON JG BALE SJ

Citation: Gr. Rogers et al., GENETIC HOMOGENEITY IN SJOGREN-LARSSON SYNDROME - LINKAGE TO CHROMOSOME 17P IN FAMILIES OF DIFFERENT NON-SWEDISH ETHNIC-ORIGINS, American journal of human genetics, 57(5), 1995, pp. 1123-1129

SJOGREN-LARSSON SYNDROME (SLS) IS CAUSED BY MUTATIONS IN THE FATTY ALDEHYDE DEHYDROGENASE GENE

Authors: RIZZO WB ROGERS GR MAREKOV LN STEINERT PM COMPTON JG MARKOVA N DELAURENZI V

Citation: Wb. Rizzo et al., SJOGREN-LARSSON SYNDROME (SLS) IS CAUSED BY MUTATIONS IN THE FATTY ALDEHYDE DEHYDROGENASE GENE, American journal of human genetics, 57(4), 1995, pp. 24-24

SJOGREN-LARSSON SYNDROME (SLS) AND FATTY ALDEHYDE DEHYDROGENASE (FALDH) GENES MAP TO CHROMOSOME 17P

Authors: ROGERS GR RIZZO WB ZLOTOGORSKI A HASHEM N LEE M BALE SJ COMPTON JG

Citation: Gr. Rogers et al., SJOGREN-LARSSON SYNDROME (SLS) AND FATTY ALDEHYDE DEHYDROGENASE (FALDH) GENES MAP TO CHROMOSOME 17P, American journal of human genetics, 57(4), 1995, pp. 1160-1160

ON BEING LED BY THE NOSE - RAPID DETECTION OF INBORN-ERRORS OF METABOLISM

Authors: RIZZO WB ROTH KS

Citation: Wb. Rizzo et Ks. Roth, ON BEING LED BY THE NOSE - RAPID DETECTION OF INBORN-ERRORS OF METABOLISM, Archives of pediatrics & adolescent medicine, 148(8), 1994, pp. 869-872

PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS

Authors: RIZZO WB CRAFT DA KELSON TL BONNEFONT JP SAUDUBRAY JM SCHULMAN JD BLACK SH TABSH K DIROCCO M GARDNER RJM

Citation: Wb. Rizzo et al., PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS, Prenatal diagnosis, 14(7), 1994, pp. 577-581

SJOGREN-LARSSON SYNDROME - NUCLEAR-MAGNETIC-RESONANCE IMAGING OF THE BRAIN IN A 4-YEAR-OLD BOY

Authors: DIROCCO M FILOCAMO M TORTORIDONATI P VENESELLI E BORRONE C RIZZO WB

Citation: M. Dirocco et al., SJOGREN-LARSSON SYNDROME - NUCLEAR-MAGNETIC-RESONANCE IMAGING OF THE BRAIN IN A 4-YEAR-OLD BOY, Journal of inherited metabolic disease, 17(1), 1994, pp. 112-114