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La ricerca find articoli where soggetti phrase all words 'carnitine deficiency' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 145 riferimenti
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    1. Wang, YH; Korman, SH; Ye, J; Gargus, JJ; Gutman, A; Taroni, F; Garavaglia, B; Longo, N
      Phenotype and genotype variation in primary carnitine deficiency

      GENETICS IN MEDICINE
    2. Vladutiu, GD
      Heterozygosity: An expanding role in proteomics

      MOLECULAR GENETICS AND METABOLISM
    3. Lahjouji, K; Mitchell, GA; Qureshi, IA
      Carnitine transport by organic cation transporters and systemic carnitine deficiency

      MOLECULAR GENETICS AND METABOLISM
    4. Infante, JP; Huszagh, VA
      Impaired arachidonic (20 : 4n-6) and docosahexaenoic (22 : 6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria

      MOLECULAR GENETICS AND METABOLISM
    5. Sayed-Ahmed, MM; Khattab, MM; Gad, MZ; Mostafa, N
      L-carnitine prevents the progression of atherosclerotic lesions in hypercholesterolaemic rabbits

      PHARMACOLOGICAL RESEARCH
    6. Kottlors, M; Jaksch, M; Ketelsen, UP; Weiner, S; Glocker, FX; Lucking, CH
      Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency

      NEUROMUSCULAR DISORDERS
    7. Nelson, HK; Lauber, RP; Sheard, NF
      Effect of various levels of supplementation with sodium pivalate on tissuecarnitine concentrations and urinary excretion of carnitine in the rat

      JOURNAL OF NUTRITIONAL BIOCHEMISTRY
    8. Tung, YC; Tsau, YK; Chu, LW; Young, C; Shen, YZ
      Lipid myopathy associated with renal tubular acidosis and spastic diplegiain two brothers

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    9. Lopriore, E; Gemke, RJBJ; Verhoeven, NM; Jakobs, C; Wanders, RJA; Roeleveld-Versteeg, ABC; Poll-The, BT
      Carnitine-acylcaraitine translocase deficiency: phenotype, residual enzymeactivity and outcome

      EUROPEAN JOURNAL OF PEDIATRICS
    10. Hauser, M; Gibson, BS; Wilson, N
      Diagnosis of anthracycline-induced late cardiomyopathy by exercise-spiroergometry and stress-echocardiography

      EUROPEAN JOURNAL OF PEDIATRICS
    11. Kamiya, H; Okumura, K; Ito, M; Matsui, H; Saburi, Y; Hayashi, K; Hayakawa, T
      Antioxidant changes in the hypertrophied heart due to energy metabolic disorder

      BASIC RESEARCH IN CARDIOLOGY
    12. Koteish, A; Diehl, AM
      Animal models of steatosis

      SEMINARS IN LIVER DISEASE
    13. Dougherty, FE
      Metabolic testing in mitochondrial disease

      SEMINARS IN NEUROLOGY
    14. Larsen, H; Nielsen, GL; Moller, M; Ebbesen, F; Schonheyder, HC; Sorensen, HT
      Birth outcome and risk of neonatal hypoglycaemia following in utero exposure to pivmecillinam: A population-based cohort study with 414 exposed pregnancies

      SCANDINAVIAN JOURNAL OF INFECTIOUS DISEASES
    15. Ricciolini, R; Scalibastri, M; Carminati, P; Arduini, A
      The effect of pivalate treatment of pregnant rats on body mass and insulinlevels in the adult offspring

      LIFE SCIENCES
    16. Higashi, Y; Yokogawa, K; Takeuchi, N; Tamai, I; Nomura, M; Hashimoto, N; Hayakawa, JI; Miyamoto, KI; Tsuji, A
      Effect of gamma-butyrobetaine on fatty liver in juvenile visceral steatosis mice

      JOURNAL OF PHARMACY AND PHARMACOLOGY
    17. Brooks, H; Krahenbuhl, S
      Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2

      FEBS LETTERS
    18. Tang, NLS; Hui, J; Law, LK; To, KF; Mak, TWL; Cheung, KL; Vreken, P; Wanders, RJA; Fok, TF
      Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong

      CLINICA CHIMICA ACTA
    19. Broderick, TL; Cifuentes, J; Green, D; Paulson, DJ
      Short-term carnitine deficiency does not alter aerobic rat heart function but depresses reperfusion recovery after ischemia

      CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY
    20. DiMauro, S; Hirano, M; Schon, EA
      Mitochondrial encephalomyopathies: therapeutic approaches

      NEUROLOGICAL SCIENCES
    21. Saheki, T; Li, MX; Kobayashi, K
      Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: A study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice

      MOLECULAR GENETICS AND METABOLISM
    22. Vladutiu, GD; Bennett, MJ; Smail, D; Wong, LJ; Taggart, RT; Lindsley, HB
      A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene

      MOLECULAR GENETICS AND METABOLISM
    23. Wang, YH; Taroni, F; Garavagalia, B; Longo, N
      Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation

      HUMAN MUTATION
    24. Wang, YH; Kelly, MA; Cowan, TM; Longo, N
      A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

      HUMAN MUTATION
    25. Treem, WR
      New developments in the pathophysiology, clinical spectrum, and diagnosis of disorders of fatty acid oxidation

      CURRENT OPINION IN PEDIATRICS
    26. Higashi, M; Kobayashi, K; Iijima, M; Wakana, S; Horiuchi, M; Yasuda, T; Yoshida, G; Kanmura, Y; Saheki, T
      Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene

      MAMMALIAN GENOME
    27. Alizad, A; Seward, JB
      Echocardiographic features of genetic diseases: Part 1. Cardiomyopathy

      JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
    28. Moundras, JM; Wattrisse, G; Leroy, B; Decocq, J; Krivosic-Horber, R
      Labour analgesia in a patient with carnitine palmityl transferase deficiency.

      ANNALES FRANCAISES D ANESTHESIE ET DE REANIMATION
    29. Wagner, CA; Lukewille, U; Kaltenbach, S; Moschen, I; Broer, A; Risler, T; Broer, S; Lang, F
      Functional and pharmacological characterization of human Na+-carnitine cotransporter hOCTN2

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    30. Visser, G; Suormala, T; Smit, GPA; Reijngoud, DJ; Bink-Boelkens, MTE; Niezen-Koning, KE; Baumgartner, ER
      3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father

      EUROPEAN JOURNAL OF PEDIATRICS
    31. Soetekouw, PMMB; Wevers, RA; Vreken, P; Elving, LD; Janssen, AJM; van der Veen, Y; Bleijenberg, G; van der Meer, JWM
      Normal carnitine levels in patients with chronic fatigue syndrome

      NETHERLANDS JOURNAL OF MEDICINE
    32. Zorzano, A; Fandos, C; Palacin, M
      Role of plasma membrane transporters in muscle metabolism

      BIOCHEMICAL JOURNAL
    33. Muller-Hocker, J; Schafer, S; Mendel, B; Lochmuller, H; Pongratz, D
      Nemaline cardiomyopathy in a young adult: An ultraimmunohistochemical study and review of the literature

      ULTRASTRUCTURAL PATHOLOGY
    34. Praphanproj, V; Boyadjiev, SA; Waber, LJ; Brusilow, SW; Geraghty, MT
      Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia

      JOURNAL OF INHERITED METABOLIC DISEASE
    35. Tamai, I; Ohashi, R; Nezu, J; Sai, Y; Kobayashi, D; Oku, A; Shimane, M; Tsuji, A
      Molecular and functional characterization of organic cation/carnitine transporter family in mice

      JOURNAL OF BIOLOGICAL CHEMISTRY
    36. Roschinger, W; Muntau, AC; Duran, M; Dorland, L; IJlst, L; Wanders, RJA; Roscher, AA
      Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

      CLINICA CHIMICA ACTA
    37. Larsen, H; Nielsen, GL; Sorensen, HT; Moller, M; Olsen, J; Schonheyder, HC
      A follow-up study of birth outcome in users of pivampicillin during pregnancy

      ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
    38. Bonnefont, JP; Demaugre, F; Prip-Buus, C; Saudubray, JM; Brivet, M; Abadi, N; Thuillier, L
      Carnitine palmitoyltransferase deficiencies

      MOLECULAR GENETICS AND METABOLISM
    39. Abu Musa, DMA; Kobayashi, K; Yasuda, I; Iijima, M; Christoffels, VM; Tomomura, M; Horiuchi, M; Ohnishi, T; Kajihara, T; Daikuhara, Y; Lamers, WH; Saheki, T
      Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice

      MOLECULAR GENETICS AND METABOLISM
    40. Gilbert-Barness, E; Barness, LA
      Nonmalformative cardiovascular pathology in infants and children

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    41. Taggart, RT; Smail, D; Apolito, C; Vladutiu, GD
      Novel mutations associated with carnitine palmitoyltransferase II deficiency

      HUMAN MUTATION
    42. Pap, M; Kopcsanyi, G; Bieber, LL; Gage, DA; Melegh, B
      Cefetamet pivoxil treatment causes loss of carnitine reserves that can be prevented by exogenous carnitine administration

      JOURNAL OF NUTRITIONAL BIOCHEMISTRY
    43. Verrotti, A; Greco, R; Morgese, G; Chiarelli, F
      Carnitine deficiency and hyperammonemia in children receiving valproic acid with and without other anticonvulsant drugs

      INTERNATIONAL JOURNAL OF CLINICAL & LABORATORY RESEARCH
    44. Gonzalez-Crespo, MR; Arenas, J; Gomez-Reino, JJ; Campos, Y; Borstein, B; Martin, MA; Cabello, A; Garcia-Ryo, R; Ricoy, JR
      Muscle dysfunction in elderly individuals with hip fracture

      JOURNAL OF RHEUMATOLOGY
    45. Otto, LR; Boriack, RL; Marsh, DJ; Kum, JB; Eng, C; Burlina, AB; Bennett, MJ
      Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    46. Tein, I; Haslam, RHA; Rhead, WJ; Bennett, MJ; Becker, LE; Vockley, J
      Short-chain acyl-CoA dehydrogenase deficiency - A cause of ophthalmoplegiaand multicore myopathy

      NEUROLOGY
    47. Jalil, MA; Horiuchi, M; Nomoto, M; Kobayashi, K; Saheki, T
      Catecholamine metabolism inhibitors and receptor blockades only partially suppress cardiac hypertrophy of juvenile visceral steatosis mice with systemic carnitine deficiency

      LIFE SCIENCES
    48. Platt, SR; Chrisman, CL; Shelton, GD
      Lipid storage myopathy in a cocker spaniel

      JOURNAL OF SMALL ANIMAL PRACTICE
    49. Wu, X; Huang, W; Prasad, PD; Seth, P; Rajan, DP; Leibach, FH; Chen, JW; Conway, SJ; Ganapathy, V
      Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter

      JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS
    50. Toshimori, K; Kuwajima, M; Yoshinaga, K; Wakayama, T; Shima, K
      Dysfunctions of the epididymis as a result of primary carnitine deficiencyin juvenile visceral steatosis mice

      FEBS LETTERS
    51. Scaglia, F; Wang, YH; Longo, N
      Functional characterization of the carnitine transporter defective in primary carnitine deficiency

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    52. CASTELLAR MR; CANOVAS M; KLEBER HP; IBORRA JL
      BIOTRANSFORMATION OF D(-CARNITINE INTO L(-)-CARNITINE BY RESTING CELLS OF ESCHERICHIA-COLI O44 K74())

      Journal of applied microbiology
    53. MORRIS AAM; TURNBULL DM
      FATTY-ACID OXIDATION DEFECTS IN MUSCLE

      Current opinion in neurology
    54. WATAYA K; AKANUMA J; CAVADINI P; AOKI Y; KURE S; INVERNIZZI F; YOSHIDA I; KIRA J; TARONI F; MATSUBARA Y; NARISAWA K
      2 CPT2 MUTATIONS IN 3 JAPANESE PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - FUNCTIONAL-ANALYSIS AND ASSOCIATION WITH POLYMORPHIC HAPLOTYPES AND 2 CLINICAL PHENOTYPES

      Human mutation
    55. GREGERSEN N; WINTER VS; CORYDON MJ; CORYDON TJ; RINALDO P; RIBES A; MARTINEZ G; BENNETT MJ; VIANEYSABAN C; BHALA A; HALE DE; LEHNERT W; KMOCH S; ROIG M; RIUDOR E; EIBERG H; ANDRESEN BS; BROSS P; BOLUND LA; KOLVRAA S
      IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA

      Human molecular genetics
    56. Campoy, C; Bayes, R; Peinado, JM; Rivero, M; Lopez, C; Molina-Font, JA
      Evaluation of carnitine nutritional status in full-term newborn infants

      EARLY HUMAN DEVELOPMENT
    57. RIBES A; RIUDOR E; GARAVAGLIA B; MARTINEZ G; ARRANZ A; INVERNIZZI F; BRIONES P; LAMANTEA E; SENTIS M; BARCELO A; ROIG M
      MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

      European journal of pediatrics
    58. Reichmann, H; DiMauro, S
      Mitochondrial medicine

      AKTUELLE NEUROLOGIE
    59. Pion, PD; Sanderson, SL; Kittelson, MD
      The effectiveness of taurine and levocarnitine in dogs with heart disease

      VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE
    60. FONTAINE M; BRIAND G; LARGILLIERE C; DEGAND P; DIVRY P; VIANEYSABAN C; MOUSSON B; VAMECQ J
      METABOLIC STUDIES IN A PATIENT WITH SEVERE CARNITINE PALMITOYLTRANSFERASE TYPE-II DEFICIENCY

      Clinica chimica acta
    61. HASHIMOTO N; SUZUKI F; TAMAI I; NIKAIDO H; KUWAJIMA M; HAYAKAWA JI; TSUJI A
      GENE-DOSE EFFECT ON CARNITINE TRANSPORT ACTIVITY IN EMBRYONIC FIBROBLASTS OF JVS MICE AS A MODEL OF HUMAN CARNITINE TRANSPORTER DEFICIENCY

      Biochemical pharmacology
    62. PORSCHKE H; KRESS W; REICHMANN H; GOEBEL HH; GRIMM T
      OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN A NORTHERN GERMAN FAMILY LINKEDTO CHROMOSOME 14Q, AND PRESENTING CARNITINE DEFICIENCY

      Neuromuscular disorders
    63. TRIGGS WJ; GILMORE RL; MILLINGTON DS; CIBULA J; BUNCH TS; HARMAN E
      VALPROATE-ASSOCIATED CARNITINE DEFICIENCY AND MALIGNANT CEREBRAL EDEMA IN THE ABSENCE OF HEPATIC-FAILURE

      International journal of clinical pharmacology and therapeutics
    64. ALTUNBASAK S; BAYTOK V; TASOUJI M; HERGUNER O; BURGUT R; KAYRIN L
      ASYMPTOMATIC HYPERAMMONEMIA IN CHILDREN TREATED WITH VALPROIC ACID

      Journal of child neurology
    65. INFANTE JP; HUSZAGH VA
      ON THE MOLECULAR ETIOLOGY OF DECREASED ARACHIDONIC (20 4N-6), DOCOSAPENTAENOIC (22/5N-6) AND DOCOSAHEXAENOIC (22/6N-3) ACIDS IN ZELLWEGER-SYNDROME AND OTHER PEROXISOMAL DISORDERS/

      Molecular and cellular biochemistry
    66. IGAL RA; RHOADS JM; COLEMAN RA
      NEUTRAL LIPID STORAGE DISEASE WITH FATTY LIVER AND CHOLESTASIS

      Journal of pediatric gastroenterology and nutrition
    67. MELEGH B; TROMBITAS K
      VALPROATE TREATMENT INDUCES LIPID GLOBULE ACCUMULATION WITH ULTRASTRUCTURAL ABNORMALITIES OF MITOCHONDRIA IN SKELETAL-MUSCLE

      Neuropediatrics
    68. OBON JM; MAIQUEZ JR; CANOVAS M; KLEBER HP; IBORRA JL
      L(-)-CARNITINE PRODUCTION WITH IMMOBILIZED ESCHERICHIA-COLI-CELLS IN CONTINUOUS REACTORS

      Enzyme and microbial technology
    69. YOSHIMINE K; HORIUCHI M; SUZUKI S; KOBAYASHI K; ABDUL JM; MASUDA M; TOMOMURA M; OGAWA Y; ITOH H; NAKAO K; OSAME M; SAHEKI T
      ALTERED EXPRESSION OF ATRIAL-NATRIURETIC-PEPTIDE AND CONTRACTILE PROTEIN GENES IN HYPERTROPHIED VENTRICLE OF JVS MICE WITH SYSTEMIC CARNITINE DEFICIENCY

      Journal of Molecular and Cellular Cardiology
    70. ABDELALEEM S; ELMERZABANI MM; SAYEDAHMED M; TAYLOR DA; LOWE JE
      ACUTE AND CHRONIC EFFECTS OF ADRIAMYCIN ON FATTY-ACID OXIDATION IN ISOLATED CARDIAC MYOCYTES

      Journal of Molecular and Cellular Cardiology
    71. CHANG MCJ; GRANGE E; RABIN O; BELL JM
      INCORPORATION OF [U-C-14]PALMITATE INTO RAT-BRAIN - EFFECT OF AN INHIBITOR OF BETA-OXIDATION

      Journal of lipid research
    72. BARDITCHCROVO P; TOOLE J; HENDRIX CW; CUNDY KC; EBELING D; JAFFE HS; LIETMAN PS
      ANTI-HUMAN-IMMUNODEFICIENCY-VIRUS (HIV) ACTIVITY, SAFETY, AND PHARMACOKINETICS OF ADEFOVIR DIPIVOXIL PIVALOYLOXYMETHYL)-PHOSPHONYLMETHOXYETHYL]ADENINE) IN HIV-INFECTED PATIENTS

      The Journal of infectious diseases
    73. TOMOMURA M; TOMOMURA A; ABUMUSA DA; HORIUCHI M; TAKIGUCHI M; MORI M; SAHEKI T
      SUPPRESSED EXPRESSION OF THE UREA CYCLE ENZYME GENES IN THE LIVER OF CARNITINE-DEFICIENT JUVENILE VISCERAL STEATOSIS (JVS) MICE IN INFANCY AND DURING STARVATION IN ADULTHOOD

      Journal of Biochemistry
    74. MASUDA M; KOBAYASHI K; HORIUCHI M; TERAZONO H; YOSHIMURA N; SAHEKI T
      A NOVEL GENE SUPPRESSED IN THE VENTRICLE OF CARNITINE-DEFICIENT JUVENILE VISCERAL STEATOSIS MICE

      FEBS letters
    75. KAIDO M; FUJIMURA H; ONO A; TOYOOKA K; YOSHIKAWA H; NISHIMURA T; OZAKI K; NARAMA I; KUWAJIMA M
      MITOCHONDRIAL ABNORMALITIES IN A MARINE MODEL OF PRIMARY CARNITINE DEFICIENCY - SYSTEMIC PATHOLOGY AND TRIAL OF REPLACEMENT THERAPY

      European neurology
    76. ANTOZZI C; ZEVIANI M
      CARDIOMYOPATHIES IN DISORDERS OF OXIDATIVE-METABOLISM

      Cardiovascular Research
    77. SCHOLS L; REICHMANN H; AMOIRIDIS G; SEIBEL P; WAGENER S; SEUFERT S; PRZUNTEK H
      MITOCHONDRIAL DISORDERS IN DEGENERATIVE ATAXIAS

      European journal of neurology
    78. VERGANI L; ANGELINI C; PEGORARO E; CADALDINI M; SIMIONI P; GIROLAMI A; TURNBULL DM
      HEREDITARY PROTEIN-C DEFICIENCY ASSOCIATED WITH RIBOFLAVIN-RESPONSIVELIPID STORAGE MYOPATHY

      European journal of neurology
    79. HOU JW; CHOU SP; WANG TR
      METABOLIC FUNCTION AND LIVER HISTOPATHOLOGY IN REYE-LIKE ILLNESSES

      Acta paediatrica
    80. PFEIFFER G; WINKLER G; NEUNZIG P; WOLF W; THAYSSEN G; KUNZE K
      LONG-TERM MANAGEMENT OF ACUTE RESPIRATORY-FAILURE IN METABOLIC MYOPATHY

      Intensive care medicine
    81. HOTTA K; KUWAJIMA M; ONO A; UENAKA R; NAKAJIMA H; MIYAGAWA J; NAMBA M; HANAFUSA T; HORIUCHI M; NIKAIDO H; HAYAKAWA J; KONO N; SAHEKI T; MATSUZAWA Y
      ALTERED EXPRESSION OF CARNITINE PALMITOYLTRANSFERASE-II IN LIVER, MUSCLE, AND HEART OF MOUSE STRAIN WITH JUVENILE VISCERAL STEATOSIS

      Biochimica et biophysica acta (G). General subjects
    82. ZAMMARCHI E; DONATI MA; FILIPPI L; RESTI M
      CRYPTOGENIC HEPATITIS MASKING THE DIAGNOSIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY

      Journal of pediatric gastroenterology and nutrition
    83. HOTTA K; KUWAJIMA M; ONO A; NAKAJIMA H; HORIKAWA Y; MIYAGAWA J; NAMBA M; HANAFUSA T; HORIUCHI M; NIKAIDO H; HAYAKAWA J; SAHEKI T; KONO N; NOGUCHI T; MATSUZAWA Y
      DISORDERED EXPRESSION OF GLYCOLYTIC AND GLUCONEOGENIC LIVER-ENZYMES OF JUVENILE VISCERAL STEATOSIS MICE WITH SYSTEMIC CARNITINE DEFICIENCY

      Diabetes research and clinical practice
    84. BENNETT MJ; HALE DE; POLLITT RJ; STANLEY CA; VARIEND S
      ENDOCARDIAL FIBROELASTOSIS AND PRIMARY CARNITINE DEFICIENCY DUE TO A DEFECT IN THE PLASMA-MEMBRANE CARNITINE TRANSPORTER

      Clinical cardiology
    85. CORYDON MJ; GREGERSEN N; LEHNERT W; RIBES A; RINALDO P; KMOCH S; CHRISTENSEN E; KRISTENSEN TJ; ANDRESEN BS; BROSS P; WINTER V; MARTINEZ G; NEVE S; JENSEN TG; BOLUND L; KOLVRAA S
      ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE

      Pediatric research
    86. RICHTER T; MULLER DM; SEIM H
      CARNITINE DEFICIENCY IN CHILDREN WITH LON G-TERM TUBE-FEEDING VIA PERCUTANEOUS ENDOSCOPICALLY CONTROLLED GASTROSTOMY (PEG)

      Monatsschrift fur Kinderheilkunde
    87. REUE K; DOOLITTLE MH
      NATURALLY-OCCURRING MUTATIONS IN MICE AFFECTING LIPID TRANSPORT AND METABOLISM

      Journal of lipid research
    88. UENAKA R; KUWAJIMA M; ONO A; MATSUZAWA Y; HAYAKAWA J; INOHARA N; KAGAWA Y; OHTA S
      INCREASED EXPRESSION OF CARNITINE PALMITOYLTRANSFERASE I GENE IS REPRESSED BY ADMINISTERING L-CARNITINE IN THE HEARTS OF CARNITINE-DEFICIENT JUVENILE VISCERAL STEATOSIS MICE

      Journal of Biochemistry
    89. TOMOMURA M; TOMOMURA A; ABUMUSA DMA; SAHEKI T
      LONG-CHAIN FATTY-ACIDS SUPPRESS THE INDUCTION OF UREA CYCLE ENZYME GENES BY GLUCOCORTICOID ACTION

      FEBS letters
    90. SCHMECHEL DE; BURKHART DS; ANGE R; IZARD MK
      CHOLINERGIC AXONAL DYSTROPHY AND MITOCHONDRIAL PATHOLOGY IN PROSIMIANPRIMATES

      Experimental neurology
    91. TEIN I; XIE ZW
      THE HUMAN PLASMALEMMAL CARNITINE TRANSPORTER DEFECT IS EXPRESSED IN CULTURED LYMPHOBLASTS - A NEW NONINVASIVE METHOD FOR DIAGNOSIS

      Clinica chimica acta
    92. MELVILLE C; ATHERTON D; BURCH M; COHN A; SULLIVAN I
      FATAL CARDIOMYOPATHY IN DYSTROPHIC EPIDERMOLYSIS-BULLOSA

      British journal of dermatology
    93. FARKAS V; BOCK I; CSEKO J; SANDOR A
      INHIBITION OF CARNITINE BIOSYNTHESIS BY VALPROIC ACID IN RATS - THE BIOCHEMICAL-MECHANISM OF INHIBITION

      Biochemical pharmacology
    94. MURO H; TATSUHARA T; SUGIMOTO T; WOO M; NISHIDA N; MURAKAMI K; YAMAGUCHI Y
      DETERMINATION OF URINARY VALPROYLCARNITINE BY GAS-CHROMATOGRAPHY MASS-SPECTROMETRY WITH SELECTED-ION MONITORING

      Journal of chromatography B. Biomedical applications
    95. LEHOTAY DC; CLARKE JTR
      ORGANIC ACIDURIAS AND RELATED ABNORMAL

      Critical reviews in clinical laboratory sciences
    96. MIYAGAWA J; KUWAJIMA M; HANAFUSA T; OZAKI K; FUJIMURA H; ONO A; UENAKA R; NARAMA I; OUE T; YAMAMOTO K; KAIDOH M; NIKAIDO H; HAYAKAWA J; HORIUCHI M; SAHEKI T; MATSUZAWA Y
      MITOCHONDRIAL ABNORMALITIES OF MUSCLE-TISSUE IN MICE WITH JUVENILE VISCERAL STEATOSIS ASSOCIATED WITH SYSTEMIC CARNITINE DEFICIENCY

      Virchows Archiv
    97. VENTURA FV; RUITER JPN; IJLST L; ALMEIDA IT; WANDERS RJA
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/10/20 alle ore 02:24:28