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    1. Gahl, WA
      Genotypes and phenotypes

      GENETICS IN MEDICINE
    2. Huizing, M; Anikster, Y; White, JG; Gahl, WA
      Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: Exclusion of the subtle gray (sut) locus

      MOLECULAR GENETICS AND METABOLISM
    3. Anikster, Y; Huizing, M; White, J; Shevchenko, YO; Fitzpatrick, DL; Touchman, JW; Compton, JG; Bale, SJ; Swank, RT; Gahl, WA; Toro, JR
      Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

      NATURE GENETICS
    4. Huizing, M; Sarangarajan, R; Strovel, E; Zhao, Y; Gahl, WA; Boissy, RE
      AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

      MOLECULAR BIOLOGY OF THE CELL
    5. Huizing, M; Didier, A; Walenta, J; Anikster, Y; Gahl, WA; Kramer, H
      Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

      GENE
    6. Huizing, M; Anikster, Y; Gahl, WA
      Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: Disorders of vesicle formation and trafficking

      THROMBOSIS AND HAEMOSTASIS
    7. Lee, J; Jiao, XD; Hejtmancik, JF; Kaiser-Kupfer, M; Gahl, WA; Markello, TC; Guo, JR; Chader, GJ
      The metabolism of fatty acids in human bietti crystalline dystrophy

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    8. Enns, GM; Seppala, R; Musci, TJ; Weisiger, K; Ferrell, LD; Wenger, DA; Gahl, WA; Packman, S
      Clinical course and biochemistry of sialuria

      JOURNAL OF INHERITED METABOLIC DISEASE
    9. Horne, MK; Williams, SB; Gahl, WA; Rick, ME
      Evaluation of the Xylum clot signature analyzer in normal subjects and patients with the Hermansky-Pudlak syndrome

      THROMBOSIS RESEARCH
    10. Gahl, WA
      New therapies for Fabry's disease.

      NEW ENGLAND JOURNAL OF MEDICINE
    11. Sarangarajan, R; Budev, A; Zhao, Y; Gahl, WA; Boissy, RE
      Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    12. Lukong, KE; Seyrantepe, V; Landry, K; Trudel, S; Ahmad, A; Gahl, WA; Lefrancois, S; Morales, CR; Pshezhetsky, AV
      Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail

      JOURNAL OF BIOLOGICAL CHEMISTRY
    13. Anikster, Y; Lacbawan, F; Brantly, M; Gochuico, BL; Avila, NA; Travis, W; Gahl, WA
      Pulmonary dysfunction in adults with nephropathic cystinosis

      CHEST
    14. Anikster, Y; Kleta, R; Shaag, A; Gahl, WA; Elpeleg, O
      Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. Huizing, M; Anikster, Y; Fitzpatrick, DL; Jeong, AB; D'Souza, M; Rausche, M; Toro, JR; Kaiser-Kupfer, MI; White, JG; Gahl, WA
      Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    16. Phornphutkul, C; Anikster, Y; Huizing, M; Braun, P; Brodie, C; Chou, JY; Gahl, WA
      The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, carkl, and causes cystinosis if mutated in a critical region

      AMERICAN JOURNAL OF HUMAN GENETICS
    17. Leroy, JG; Seppala, R; Huizing, M; Dacremont, G; De Simpel, H; Van Coster, RN; Orvisky, E; Krasnewich, DM; Gahl, WA
      Dominant inheritance of sialuria, an inborn error of feedback inhibition

      AMERICAN JOURNAL OF HUMAN GENETICS
    18. Huizing, M; Anikster, Y; Gahl, WA
      Hermansky-Pudlak syndrome and related disorders of organelle formation

      TRAFFIC
    19. Gahl, WA; Kuehl, EM; Iwata, F; Lindblad, A; Kaiser-Kupfer, MI
      Corneal crystals in nephropathic cystinosis: Natural history and treatmentwith cysteamine eyedrops

      MOLECULAR GENETICS AND METABOLISM
    20. Touchman, JW; Anikster, Y; Dietrich, NL; Maduro, VVB; McDowell, G; Shotelersuk, V; Bouffard, GG; Beckstrom-Sternberg, SM; Gahl, WA; Green, ED
      The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene withinthe common cystinosis-causing deletion

      GENOME RESEARCH
    21. Huizing, M; Anikster, Y; Gahl, WA
      Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

      HUMAN GENETICS
    22. Caplan, S; Dell'Angelica, EC; Gahl, WA; Bonifacino, JS
      Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex

      IMMUNOLOGY LETTERS
    23. Iwata, F; Reed, GF; Caruso, RC; Kuehl, EM; Gahl, WA; Kaiser-Kupfer, MI
      Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

      OPHTHALMOLOGY
    24. Anikster, Y; Lucero, C; Guo, JR; Huizing, M; Shotelersuk, V; Bernardini, I; McDowell, G; Iwata, F; Kaiser-Kupfer, MI; Jaffe, R; Thoene, J; Schneider, JA; Gahl, WA
      Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations

      PEDIATRIC RESEARCH
    25. Dell'Angelica, EC; Aguilar, RC; Wolins, N; Hazelwood, S; Gahl, WA; Bonifacino, JS
      Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

      JOURNAL OF BIOLOGICAL CHEMISTRY
    26. Brantly, M; Avila, NA; Shotelersuk, V; Lucero, C; Huizing, M; Gahl, WA
      Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1

      CHEST
    27. Shotelersuk, V; Dell'Angelica, EC; Hartnell, L; Bonifacino, JS; Gahl, WA
      A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

      AMERICAN JOURNAL OF MEDICINE
    28. Dell'Angelica, EC; Shotelersuk, V; Aguilar, RC; Gahl, WA; Bonifacino, JS
      Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome dueto mutations in the beta 3A subunit of the AP-3 adaptor

      MOLECULAR CELL
    29. Introne, W; Boissy, RE; Gahl, WA
      Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

      MOLECULAR GENETICS AND METABOLISM
    30. Ferreira, H; Seppala, R; Pinto, R; Huizing, M; Martins, E; Braga, AC; Gomes, L; Krasnewich, DM; Miranda, MCS; Gahl, WA
      Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics

      MOLECULAR GENETICS AND METABOLISM
    31. Anikster, Y; Lucero, C; Touchman, JW; Huizing, M; McDowell, G; Shotelersuk, V; Green, ED; Gahl, WA
      Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)

      MOLECULAR GENETICS AND METABOLISM
    32. Anikster, Y; Shotelersuk, V; Gahl, WA
      CTNS mutations in patients with cystinosis

      HUMAN MUTATION
    33. Quackenbush, EJ; Kraemer, KH; Gahl, WA; Schirch, V; Whiteman, DAH; Levine, K; Levy, HL
      Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum

      JOURNAL OF INHERITED METABOLIC DISEASE
    34. Toro, J; Turner, M; Gahl, WA
      Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene

      ARCHIVES OF DERMATOLOGY
    35. Seppala, R; Lehto, VP; Gahl, WA
      Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define thedisease sialuria and the allosteric site of the enzyme

      AMERICAN JOURNAL OF HUMAN GENETICS
    36. SHOTELERSUK V; GAHL WA
      HERMANSKY-PUDLAK-SYNDROME - MODELS FOR INTRACELLULAR VESICLE FORMATION

      Molecular genetics and metabolism ( Molecular genetics and metabolism (Print))
    37. IWATA F; KUEHL EM; REED GF; MCCAIN LM; GAHL WA; KAISERKUPFER MI
      A RANDOMIZED CLINICAL-TRIAL OF TOPICAL CYSTEAMINE DISULFIDE (CYSTAMINE) VERSUS FREE THIOL (CYSTEAMINE) IN THE TREATMENT OF CORNEAL CYSTINE CRYSTALS IN CYSTINOSIS

      MOLECULAR GENETICS AND METABOLISM
    38. SHOTELERSUK V; HAZELWOOD S; LARSON D; IWATA F; KAISERKUPFER MI; KUEHL E; BERNARDINI I; GAHL WA
      3 NEW MUTATIONS IN A GENE CAUSING HERMANSKY-PUDLAK-SYNDROME - CLINICAL CORRELATIONS

      MOLECULAR GENETICS AND METABOLISM
    39. Gahl, WA
      Untitled - Reply

      MOLECULAR GENETICS AND METABOLISM
    40. DELLANGELICA EC; SHOTELERSUK V; GAHL WA; BONIFACINO JS
      MUTATIONS IN THE BETA-3A SUBUNIT OF THE AP-3 ADAPTER COMPLEX IN PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME (HPS)

      Molecular biology of the cell
    41. MCDOWELL GA; TOWN MM; VANTHOFF W; GAHL WA
      CLINICAL AND MOLECULAR ASPECTS OF NEPHROPATHIC CYSTINOSIS

      Journal of molecular medicine
    42. HAZELWOOD S; BERNARDINI I; SHOTELERSUK V; TANGERMAN A; GUO JR; MUDD H; GAHL WA
      NORMAL BRAIN MYELINATION IN A PATIENT HOMOZYGOUS FOR A MUTATION THAT ENCODES A SEVERELY TRUNCATED METHIONINE ADENOSYLTRANSFERASE I III/

      American journal of medical genetics
    43. GAHL WA; BRANTLY M; KAISERKUPFER MI; IWATA F; HAZELWOOD S; SHOTELERSUK V; DUFFY LF; KUEHL EM; TROENDLE J; BERNARDINI I
      GENETIC-DEFECTS AND CLINICAL CHARACTERISTICS OF PATIENTS WITH A FORM OF OCULOCUTANEOUS ALBINISM (HERMANSKY-PUDLAK SYNDROME)

      The New England journal of medicine
    44. BOISSY RE; ZHAO Y; GAHL WA
      ALTERED PROTEIN LOCALIZATION IN MELANOCYTES FROM HERMANSKY-PUDLAK-SYNDROME - SUPPORT FOR THE ROLE OF THE HPS GENE-PRODUCT IN INTRACELLULAR TRAFFICKING

      Laboratory investigation
    45. SHOTELERSUK V; LARSON D; ANIKSTER Y; MCDOWELL G; LEMONS R; BERNARDINI I; GUO JR; THOENE J; GAHL WA
      CTNS MUTATIONS IN AN AMERICAN-BASED POPULATION OF CYSTINOSIS PATIENTS

      American journal of human genetics
    46. ANIKSTER Y; NYHAN WL; GAHL WA
      NTBC AND ALKAPTONURIA

      American journal of human genetics
    47. CHEN D; GUO JR; MIKI T; TACHIBANA M; GAHL WA
      MOLECULAR-CLONING AND CHARACTERIZATION OF RAB27A AND RAB27B, NOVEL HUMAN RAB PROTEINS SHARED BY MELANOCYTES AND PLATELETS

      Biochemical and molecular medicine
    48. CHEN D; GUO JR; GAHL WA
      RAB GTPASES EXPRESSED IN HUMAN-MELANOMA CELLS

      Biochimica et biophysica acta. Molecular cell research
    49. CARUSO RC; AYRES LM; IWATA F; GAHL WA; KAISERKUPFER MI
      VISUAL-EVOKED POTENTIAL (VEP) ASYMMETRY IN THE HERMANSKY-PUDLAK SYNDROME (HPS)

      Investigative ophthalmology & visual science
    50. IWATA F; CARUSO RC; AYRES LM; KUEHL EM; MCCAIN LM; GAHL WA; KAISERKUPFER MI
      OCULAR MANIFESTATIONS OF HERMANSKY-PUDLAK SYNDROME

      Investigative ophthalmology & visual science
    51. MCDOWELL G; GAHL WA
      INHERITED DISORDERS OF GLYCOPROTEIN-SYNTHESIS - CELL BIOLOGICAL INSIGHTS

      Proceedings of the Society for Experimental Biology and Medicine
    52. GAHL WA
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - HIDDEN TREASURES

      The Journal of laboratory and clinical medicine
    53. HAZELWOOD S; SHOTELERSUK V; WILDENBERG SC; CHEN D; IWATA F; KAISERKUPFER MI; WHITE JG; KING RA; GAHL WA
      EVIDENCE FOR LOCUS HETEROGENEITY IN PUERTO-RICANS WITH HERMANSKY-PUDLAK-SYNDROME

      American journal of human genetics
    54. MCDOWELL GA; TOUCHMAN J; ANIKSTER Y; CHEN D; ISOGAI T; GREEN E; GAHL WA
      A HIGH-RESOLUTION STS AND EST MAP WITHIN THE CYSTINOSIS CRITICAL REGION ON HUMAN 17P13

      American journal of human genetics
    55. HAZELWOOD S; SHOTELERSUK V; GUO J; HOGANSON G; WHITINGTON PF; GAHL WA
      EVIDENCE FOR DYSREGULATION OF CHOLESTEROL AND TRIGLYCERIDE SYNTHESIS IN AN INFANT WITH FATTY LIVER

      American journal of human genetics
    56. SEPPALA R; LEHTO VP; GAHL WA
      MOLECULAR-CLONING OF THE RATE-LIMITING ENZYME IN SIALIC-ACID SYNTHESIS, URIDINEDIPHOSPHATE-N-ACETYLGLUCOSAMINE-2-EPIMERASE (UDP-GLCNAC-2-EPIMERASE) - IMPLICATIONS FOR SIALURIA

      American journal of human genetics
    57. CLARK KF; SLYMEN DJ; SCHNEIDER JA; THOENE JG; GAHL WA; SEBRING NG; PARISI R
      INDOMETHACIN THERAPY FOR THE SHORT-TERM TREATMENT OF THE FANCONI SYNDROME IN CISTINOSIS

      Journal of investigative medicine
    58. MCDOWELL G; ISOGAI T; TANIGAMI A; HAZELWOOD S; LEDBETTER D; POLYMEROPOULOS MH; LICHTERKONECKI U; KONECKI D; TOWN MM; VANTHOFF W; WEISSENBACH J; GAHL WA
      FINE MAPPING OF THE CYSTINOSIS GENE USING AN INTEGRATED GENETIC AND PHYSICAL MAP OF A REGION WITHIN HUMAN-CHROMOSOME BAND 17P13

      Biochemical and molecular medicine
    59. KALER SG; DAS S; LEVINSON B; GOLDSTEIN DS; HOLMES CS; PATRONAS NJ; PACKMAN S; GAHL WA
      SUCCESSFUL EARLY COPPER THERAPY IN MENKES DISEASE-ASSOCIATED WITH A MUTANT TRANSCRIPT CONTAINING A SMALL IN-FRAME DELETION

      Biochemical and molecular medicine
    60. SHI ZZ; HABIB GM; RHEAD WJ; GAHL WA; HE XW; SAZER S; LIEBERMAN MW
      MUTATIONS IN THE GLUTATHIONE SYNTHETASE GENE CAUSE 5-OXOPROLINURIA

      Nature genetics
    61. CHEN D; GUO JR; MIKI T; TACHIBANA M; GAHL WA
      MOLECULAR-CLONING OF 2 NOVEL RAB GENES FROM HUMAN MELANOCYTES

      Gene
    62. GAHL WA; MCDOWELL G; KAISERKUPFER MI
      BENIGN CYSTINOSIS PATIENTS

      Cornea
    63. IWATA F; CARUSO RC; MCCAIN LM; GAHL WA; KAISERKUPFER MI
      VISUAL FUNCTION ASSESSMENT IN ADULTS WITH NEPHROPATHIC CYSTINOSIS

      Investigative ophthalmology & visual science
    64. POTTERF SB; MULLER J; BERNARDINI I; TIETZE F; KOBAYASHI T; HEARING VJ; GAHL WA
      CHARACTERIZATION OF A MELANOSOMAL TRANSPORT-SYSTEM IN MURINE MELANOCYTES MEDIATING ENTRY OF THE MELANOGENIC SUBSTRATE TYROSINE

      The Journal of biological chemistry
    65. ANDERSSON HC; KOHN AD; GAHL WA; KOHN LD
      PHOTOAFFINITY-LABELING OF LYSOSOMAL MEMBRANE-PROTEINS WITH [I-125]DIIODOTYROSINE, A SYSTEM-H LIGAND

      Biochemical and molecular medicine
    66. HAHN SH; TANNER MS; DANKE DM; GAHL WA
      NORMAL METALLOTHIONEIN SYNTHESIS IN FIBROBLASTS OBTAINED FROM CHILDREN WITH INDIAN CHILDHOOD CIRRHOSIS OR COPPER-ASSOCIATED CHILDHOOD CIRRHOSIS

      Biochemical and molecular medicine
    67. MCDOWELL GA; GAHL WA; STEPHENSON LA; SCHNEIDER JA; WEISSENBACH J; POLYMEROPOULOS MH; TOWN MM; VANTHOFF W; FARRALL M; MATHEW CG
      LINKAGE OF THE GENE FOR CYSTINOSIS TO MARKERS ON THE SHORT ARM OF CHROMOSOME-17

      Nature genetics
    68. HAHN SH; KRASNEWICH D; BRANTLY M; KVITTINGEN EA; GAHL WA
      HETEROZYGOSITY FOR AN EXON-12 SPLICING MUTATION AND A W234G MISSENSE MUTATION IN AN AMERICAN CHILD WITH CHRONIC TYROSINEMIA TYPE-1

      Human mutation
    69. KRASNEWICH DM; HOLT GD; BRANTLY M; SKOVBY F; REDWINE J; GAHL WA
      ABNORMAL SYNTHESIS OF DOLICHOL-LINKED OLIGOSACCHARIDES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Glycobiology
    70. THEODOROPOULOS DS; SHAWKER TH; HEINRICHS C; GAHL WA
      MEDULLARY NEPHROCALCINOSIS IN NEPHROPATHIC CYSTINOSIS

      Pediatric nephrology
    71. GAHL WA; POTTERF B; DURHAMPIERRE D; BRILLIANT MH; HEARING VJ
      MELANOSOMAL TYROSINE TRANSPORT IN NORMAL AND PINK-EYED DILUTION MURINE MELANOCYTES

      Pigment cell research
    72. KALER SG; BUIST NRM; HOLMES CS; GOLDSTEIN DS; MILLER RC; GAHL WA
      EARLY COPPER THERAPY IN CLASSIC MENKES DISEASE PATIENTS WITH A NOVEL SPLICING MUTATION

      Annals of neurology
    73. IWATA F; WOZENCRAFT LA; CARUSO RC; LI A; GAHL WA; MCCAIN LM; KAISERKUPFER MI
      NEPHROPATHIC CYSTINOSIS - NATURAL-HISTORY OF OCULAR FINDINGS AND RESULTS OF CLINICAL-TRIAL OF CYSTEAMINE EYE DROP INTERVENTION

      Investigative ophthalmology & visual science
    74. SCHNEIDER JA; CLARK KF; GREENE AA; REISCH JS; MARKELLO TC; GAHL WA; THOENE JG; NOONAN PK; BERRY KA
      RECENT ADVANCES IN THE TREATMENT OF CYSTINOSIS

      Journal of inherited metabolic disease
    75. GAHL WA; INGELFINGER J; MOHAN P; BERNARDINI I; HYMAN PE; TANGERMAN A
      INTRAVENOUS CYSTEAMINE THERAPY FOR NEPHROPATHIC CYSTINOSIS

      Pediatric research
    76. KALER SG; GAHL WA
      MOLECULAR INFLUENCE ON RESPONSIVENESS TO VERY EARLY COPPER REPLACEMENT IN CLASSICAL MENKES DISEASE

      Pediatric research
    77. KIMONIS VE; TROENDLE J; ROSE SR; YANG ML; MARKELLO TC; GAHL WA
      EFFECTS OF EARLY CYSTEAMINE THERAPY ON THYROID-FUNCTION AND GROWTH INNEPHROPATHIC CYSTINOSIS

      The Journal of clinical endocrinology and metabolism
    78. ANDERSSON HC; VONFIGURA K; HILLEREHFELD A; KOHN A; GAHL WA; KOHN LD
      2 APPROACHES TO PURIFICATION OF NOVEL LYSOSOMAL MEMBRANE-PROTEINS

      American journal of human genetics
    79. KALER SG; GALLO LK; PROUD VK; PERCY AK; MARK Y; SEGAL NA; GOLDSTEIN DS; HOLMES CS; GAHL WA
      OCCIPITAL HORN SYNDROME AND A MILD MENKES PHENOTYPE ASSOCIATED WITH SPLICE-SITE MUTATIONS AT THE MNK LOCUS

      Nature genetics
    80. DALAKAS MC; LEONMONZON ME; BERNARDINI I; GAHL WA; JAY CA
      ZIDOVUDINE-INDUCED MITOCHONDRIAL MYOPATHY IS ASSOCIATED WITH MUSCLE CARNITINE DEFICIENCY AND LIPID STORAGE

      Annals of neurology
    81. CHARNAS LR; LUCIANO CA; DALAKAS M; GILLIATT RW; BERNARDINI I; ISHAK K; CWIK VA; FRAKER D; BRUSHART TA; GAHL WA
      DISTAL VACUOLAR MYOPATHY IN NEPHROPATHIC CYSTINOSIS

      Annals of neurology
    82. KALER SG; GALLO LK; PROUD VK; PERCY AK; HOLMES CS; GOLDSTEIN DS; GAHL WA
      A-]T TRANSVERSION AT THE +3 POSITION OF A SPLICE DONOR SITE IN THE MENKES GENE ASSOCIATED WITH A DISTINCTIVE PHENOTYPE

      Pediatric research
    83. HAHN SH; BRANTLY ML; OLIVER C; ADAMSON M; KALER SG; GAHL WA
      METALLOTHIONEIN SYNTHESIS AND DEGRADATION IN INDIAN CHILDHOOD CIRRHOSIS FIBROBLASTS

      Pediatric research
    84. OSHIRO S; NAKAMURA Y; ISHIGE R; HORI M; NAKAJIMA H; GAHL WA
      REDUCTION SITE OF TRANSFERRIN-DEPENDENT AND TRANSFERRIN-INDEPENDENT IRON IN CULTURED HUMAN FIBROBLASTS

      Journal of Biochemistry
    85. HAHN SH; KRASNEWICH DM; GAHL WA
      MUTATION ANALYSIS OF THE FUMARYLACETOACETATE HYDROLASE GENE IN AN AMERICAN BOY WITH TYROSINEMIA TYPE-I

      Clinical research
    86. CENTENO JA; ISHAK KG; MULLICK FG; GAHL WA; OLEARY TJ
      INFRARED MICROSPECTROSCOPY AND LASER RAMAN MICROPROBE IN THE DIAGNOSIS OF CYSTINOSIS

      Applied spectroscopy
    87. KAISERKUPFER MI; CHAN CC; MARKELLO TC; CRAWFORD MA; CARUSO RC; CSAKY KG; GUO JR; GAHL WA
      CLINICAL BIOCHEMICAL AND PATHOLOGICAL CORRELATIONS IN BIETTIS CRYSTALLINE DYSTROPHY

      American journal of ophthalmology
    88. HAHN SH; GAHL WA
      COPPER EFFECTS ON METAL REGULATORY FACTORS OF CULTURED HUMAN FIBROBLASTS

      Biochemical medicine and metabolic biology
    89. GAHL WA; BERNARDINI I; TIETZE F; KOHN LD
      EFFECTS OF CYCLOHEXIMIDE AND TUNICAMYCIN ON LYSOSOMAL CYSTINE TRANSPORT IN RAT FRTL-5 CELLS

      Biochemical medicine and metabolic biology
    90. KALER SG; GOLDSTEIN DS; HOLMES C; SALERNO JA; GAHL WA
      PLASMA AND CEREBROSPINAL-FLUID NEUROCHEMICAL PATTERN IN MENKES DISEASE

      Annals of neurology
    91. KALER SG; GAHL WA
      APPLICATION OF A COPPER BLOTTING METHOD TO THE STUDY OF MENKES DISEASE

      Biological trace element research
    92. KALER SG; GAHL WA; BERRY SA; HOLMES CS; GOLDSTEIN DS
      PREDICTIVE VALUE OF PLASMA-CATECHOLAMINE LEVELS IN NEONATAL DETECTIONOF MENKES DISEASE

      Journal of inherited metabolic disease
    93. THEODOROPOULOS DS; KRASNEWICH D; KAISERKUPFER MI; GAHL WA
      CLASSIC NEPHROPATHIC CYSTINOSIS AS AN ADULT DISEASE

      JAMA, the journal of the American Medical Association
    94. GAHL WA; BERNARDINI IM; DALAKAS MC; MARKELLO TC; KRASNEWICH DM; CHARNAS LR
      MUSCLE CARNITINE REPLETION BY LONG-TERM CARNITINE SUPPLEMENTATION IN NEPHROPATHIC CYSTINOSIS

      Pediatric research
    95. MARKELLO TC; BERNARDINI IM; GAHL WA
      IMPROVED RENAL-FUNCTION IN CHILDREN WITH CYSTINOSIS TREATED WITH CYSTEAMINE

      The New England journal of medicine
    96. OSHIRO S; NAKAJIMA H; MARKELLO T; KRASNEWICH D; BERNARDINI I; GAHL WA
      REDOX, TRANSFERRIN-INDEPENDENT, AND RECEPTOR-MEDIATED ENDOCYTOSIS IRON UPTAKE SYSTEMS IN CULTURED HUMAN FIBROBLASTS

      The Journal of biological chemistry
    97. CHIK CL; FRIEDMAN A; MERRIAM GR; GAHL WA
      PITUITARY-TESTICULAR FUNCTION IN NEPHROPATHIC CYSTINOSIS

      Annals of internal medicine


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Documento generato il 04/06/20 alle ore 07:51:45