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La ricerca find articoli where soggetti phrase all words 'COA DEHYDROGENASE-DEFICIENCY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 129 riferimenti
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    1. Rashed, MS
      Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases

      JOURNAL OF CHROMATOGRAPHY B
    2. Mills, GA; Walker, V
      Headspace solid-phase microextraction profiling of volatile compounds in urine: application to metabolic investigations

      JOURNAL OF CHROMATOGRAPHY B
    3. 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
    4. Infante, JP; Huszagh, VA
      Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22 : 6n-3) biosynthesis

      MOLECULAR GENETICS AND METABOLISM
    5. Kolker, S; Ahlemeyer, B; Huhne, R; Mayatepek, E; Krieglstein, J; Hoffmann, GF
      Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures

      EUROPEAN JOURNAL OF NEUROSCIENCE
    6. Zschocke, J; Schulze, A; Lindner, M; Fiesel, S; Olgemoller, K; Hoffmann, GF; Penzien, J; Ruiter, JPN; Wanders, RJA; Mayatepek, E
      Molecular and functional characterisation of mild MCAD deficiency

      HUMAN GENETICS
    7. Rinaldo, P
      Fatty acid transport and mitochondrial oxidation disorders

      SEMINARS IN LIVER DISEASE
    8. Onkenhout, W; Venizelos, V; Scholte, HR; de Klerk, JBC; Poorthuis, BJHM
      Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects

      JOURNAL OF INHERITED METABOLIC DISEASE
    9. Romppanen, EL
      Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders

      SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
    10. Hartley, LM; Khwaja, OS; Verity, CM
      Glutaric aciduria type 1 and nonaccidental head injury

      PEDIATRICS
    11. Kolker, S; Ahlemeyer, B; Krieglstein, J; Hoffmann, GF
      Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons

      PEDIATRIC RESEARCH
    12. Zytkovicz, TH; Fitzgerald, EF; Marsden, D; Larson, CA; Shih, VE; Johnson, DM; Strauss, AW; Comeau, AM; Eaton, RB; Grady, GF
      Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New Englandnewborn screening program

      CLINICAL CHEMISTRY
    13. Chace, DH
      Mass spectrometry in the clinical laboratory

      CHEMICAL REVIEWS
    14. Lund, AM; Leonard, JV
      Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

      ARCHIVES OF DISEASE IN CHILDHOOD
    15. Stojanovic, N; Walker, V; Gatling, W; Coppini, DV
      MADD or drunk? Adults have inborn errors too

      HOSPITAL MEDICINE
    16. Sermon, K; Henderix, P; Lissens, W; De Vos, A; Vandervorst, M; Vanderfaeillie, A; Vamos, E; Van Steirteghem, A; Liebaers, I
      Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

      MOLECULAR HUMAN REPRODUCTION
    17. Rinaldo, P; Matern, D
      Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation

      GENETICS IN MEDICINE
    18. Bonafe, L; Troxler, H; Kuster, T; Heizmann, CW; Chamoles, NA; Burlina, AB; Blau, N
      Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias

      MOLECULAR GENETICS AND METABOLISM
    19. Kolker, S; Ahlemeyer, B; Krieglstein, J; Hoffmann, GF
      Cerebral organic acid disorders induce neuronal damage via excitotoxic organic acids in vitro

      AMINO ACIDS
    20. Harada, K; Yamada, A; Mine, T; Kawagoe, N; Takasu, H; Itoh, K
      Mouse homologue of the human SART3 gene encoding tumor-rejection antigen

      JAPANESE JOURNAL OF CANCER RESEARCH
    21. Silva, CG; Silva, AR; Ruschel, C; Helegda, C; Wyse, ATS; Wannmacher, CMD; Dutra, CS; Wajner, M
      Inhibition of energy production in vitro by glutaric acid in cerebral cortex of young rats

      METABOLIC BRAIN DISEASE
    22. Costa, CG; Guerand, WS; Struys, EA; Holwerda, U; ten Brink, HJ; de Almeida, IT; Duran, M; Jakobs, C
      Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS

      JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
    23. Casteels-Van Daele, M; Van Geet, C; Wouters, C; Eggermont, E
      Reye syndrome revisited: a descriptive term covering a group of heterogeneous disorders

      EUROPEAN JOURNAL OF PEDIATRICS
    24. Gregersen, N; Andresen, BS; Bross, P
      Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

      EUROPEAN JOURNAL OF PEDIATRICS
    25. Eaton, S; Bursby, T; Middleton, B; Pourfarzam, M; Mills, K; Johnson, AW; Bartlett, K
      The mitochondrial trifunctional protein: centre of a beta-oxidation metabolon?

      BIOCHEMICAL SOCIETY TRANSACTIONS
    26. Morris, AAM; Leonard, JV
      Improving the outcome for fatty acid oxidation disorders

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    27. Busquets, C; Coll, MJ; Merinero, B; Ugarte, M; Ruiz, MA; Bermejo, AM; Ribes, A
      Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis

      PRENATAL DIAGNOSIS
    28. Ioulianos, A; Wells, D; Harper, JC; Delhanty, JDA
      A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

      PRENATAL DIAGNOSIS
    29. Kafil-Hussain, NA; Monavari, A; Bowell, R; Thornton, P; Naughten, E; O'Keefe, M
      Ocular findings in glutaric aciduria type 1

      JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
    30. Zafeiriou, DI; Zschocke, J; Augoustidou-Savvopoulou, P; Mauromatis, I; Sewell, A; Kontopoulos, E; Katzos, G; Hoffmann, GF
      Atypical and variable clinical presentation of glutaric aciduria type I

      NEUROPEDIATRICS
    31. Chakrapani, A; Olpin, S; Cleary, M; Walter, JH; Wraith, JE; Besley, GTN
      Trifunctional protein deficiency: Three families with significant maternalhepatic dysfunction in pregnancy not associated with E474Q mutation

      JOURNAL OF INHERITED METABOLIC DISEASE
    32. Den Boer, MEJ; Ijlst, L; Wijburg, FA; Oostheim, W; Van Werkhoven, MA; Van Pampus, MG; Heymans, HSA; Wanders, RJA
      Heterozygosity for the common LCHAD mutation (1528G > C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low

      PEDIATRIC RESEARCH
    33. Innes, AM; Seargeant, LE; Balachandra, K; Roe, CR; Wanders, RJA; Ruiter, JPN; Casiro, O; Grewar, DA; Greenberg, CR
      Hepatic carnitine palmitoyltransferase I deficiency presenting as maternalillness in pregnancy

      PEDIATRIC RESEARCH
    34. Sander, J; Janzen, N; Sander, S; Melchiors, U; Steuerwald, U
      Neonatal screening for inborn errors of metabolism using tandem mass spectrometry

      MONATSSCHRIFT KINDERHEILKUNDE
    35. Bjugstad, KB; Goodman, SI; Freed, CR
      Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1

      JOURNAL OF PEDIATRICS
    36. Infante, JP; Huszagh, VA
      Secondary carnitine deficiency and impaired docosahexaenoic (22 : 6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation

      FEBS LETTERS
    37. Jones, PM; Quinn, R; Fennessey, PV; Tjoa, S; Goodman, SI; Fiore, S; Burlina, AB; Rinaldo, P; Boriack, RL; Bennett, MJ
      Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation

      CLINICAL CHEMISTRY
    38. Libert, R; Van Hoof, F; Thillaye, M; Vincent, MF; Nassogne, MC; de Hoffmann, E; Schanck, A
      Identification of undescribed medium-chain acylcarnitines present in urineof patients with propionic and methylmalonic acidemias

      CLINICA CHIMICA ACTA
    39. Yoon, HR; Paik, MJ; Shin, HS; Yu, C; Rinaldo, P
      Analysis of plasma free fatty acid cyanomethyl derivatives by GC-NPD for the diagnosis of mitochondrial fatty acid oxidation disorders

      CHROMATOGRAPHIA
    40. Finsterer, J; Stollberger, C
      Cardiac involvement in primary myopathies

      CARDIOLOGY
    41. Suzuki, Y; Zhang, ZY; Shimozawa, N; Muro, M; Shono, H; Toda, S; Miyahara, S; Hashimoto, T; Usuda, N; Ito, M; Takashima, S; Kondo, N
      Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

      JOURNAL OF HUMAN GENETICS
    42. Glasgow, JFT; Middleton, B; Moore, R; Gray, A; Hill, J
      The mechanism of inhibition of beta-oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    43. Pollitt, RJ
      Tandem mass spectrometry screening: proving effectiveness

      ACTA PAEDIATRICA
    44. Matsubara, Y; Fujii, K; Rinaldo, P; Narisawa, K
      A fluorogenic allele-specific amplification method for DNA-based screeningfor inherited metabolic disorders

      ACTA PAEDIATRICA
    45. Shetty, AK; Craver, RD; Harris, JA; Schmidt-Sommerfeld, E
      Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child

      PEDIATRIC EMERGENCY CARE
    46. Forstner, R; Hoffmann, GF; Gassner, I; Heideman, P; De Klerk, JBC; Lawrenz-Wolf, B; Doringer, E; Weiss-Wichert, P; Troger, J; Colombo, JP; Plochl, E
      Glutaric aciduria type I: ultrasonographic demonstration of early signs

      PEDIATRIC RADIOLOGY
    47. Rose, M; Matern, D; Millington, DS; Lehnert, W
      Untypical case of multiple acyl-CoA-dehydrogenase deficiency

      KLINISCHE PADIATRIE
    48. Hauser, SEP; Boneh, A
      Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type I

      NEUROPEDIATRICS
    49. Rinaldo, P
      Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome

      DIGESTIVE DISEASES AND SCIENCES
    50. Baric, I; Wagner, L; Feyh, P; Liesert, M; Buckel, W; Hoffmann, GF
      Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

      JOURNAL OF INHERITED METABOLIC DISEASE
    51. Wilson, CJ; Collins, JE; Leonard, JV
      Recurrent rhabdomyolysis in a child with glutaric aciduria type I

      JOURNAL OF INHERITED METABOLIC DISEASE
    52. Hoffmann, GF; Zschocke, J
      Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy

      JOURNAL OF INHERITED METABOLIC DISEASE
    53. Ravine, D
      Automated mutation analysis

      JOURNAL OF INHERITED METABOLIC DISEASE
    54. Green, A; Pollitt, RJ
      Population newborn screening for inherited metabolic disease: Current UK perspectives

      JOURNAL OF INHERITED METABOLIC DISEASE
    55. Kolker, S; Ahlemeyer, B; Krieglstein, J; Hoffmann, GF
      3-hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptorsin vitro

      JOURNAL OF INHERITED METABOLIC DISEASE
    56. Sarnaik, AP
      Reye's syndrome: Hold the obituary

      CRITICAL CARE MEDICINE
    57. Orii, KE; Orii, KO; Souri, M; Orii, T; Kondo, N; Hashimoto, T; Aoyama, T
      Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region

      JOURNAL OF BIOLOGICAL CHEMISTRY
    58. Romppanen, EL; Mononen, I
      PCR-oligonucleotide ligation assay from dried blood spots

      CLINICAL CHEMISTRY
    59. Mayatepek, E; Flock, B
      Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome

      CLINICA CHIMICA ACTA
    60. Hagen, T; Korson, MS
      Quantification of glutaric acid by isotope dilution mass spectrometry for patients with glutaric acidemia type I: selected ion monitoring vs. selected ion storage

      CLINICA CHIMICA ACTA
    61. Wilson, CJ; Champion, MP; Collins, JE; Clayton, PT; Leonard, JV
      Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

      ARCHIVES OF DISEASE IN CHILDHOOD
    62. JEVON GP; DIMMICK JE
      HISTOPATHOLOGIC APPROACH TO METABOLIC LIVER-DISEASE - PART 2

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    63. McDiarmid, SV
      The liver and metabolic diseases of childhood

      LIVER TRANSPLANTATION AND SURGERY
    64. HAUSER SEP; PETERS H
      GLUTARIC ACIDURIA TYPE-1 - AN UNDERDIAGNOSED CAUSE OF ENCEPHALOPATHY AND DYSTONIA-DYSKINESIA SYNDROME IN CHILDREN

      Journal of paediatrics and child health
    65. THOMASON MJ; LORD J; BAIN MD; CHALMERS RA; LITTLEJOHNS P; ADDISON GM; WILCOX AH; SEYMOUR CA
      A SYSTEMATIC REVIEW OF EVIDENCE FOR THE APPROPRIATENESS OF NEONATAL SCREENING PROGRAMS FOR INBORN-ERRORS OF METABOLISM

      Journal of public health medicine
    66. BURNS SP; HOLMES HC; CHALMERS RA; JOHNSON A; ILES RA
      PROTON NMR SPECTROSCOPIC ANALYSIS OF MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY-CAPACITY OF THE CHOLINE OXIDATION PATHWAY FOR METHYLATION IN-VIVO

      Biochimica et biophysica acta. Molecular basis of disease
    67. Kjaergaard, S; Graem, N; Larsen, T; Skovby, F
      Recurrent fetal polycystic kidneys associated with glutaric aciduria type II

      APMIS
    68. 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
    69. OZAND PT
      DIAGNOSIS OF INBORN-ERRORS OF METABOLISM BY TANDEM MASS-SPECTROMETRY

      Annals of saudi medicine
    70. Eaton, S; Middleton, B; Bartlett, K
      Control of mitochondrial beta-oxidation: sensitivity of the trifunctional protein to [NAD(+)]/[NADH] and [acetyl-CoA]/[CoA]

      BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY
    71. RIUDOR E
      NEONATAL ONSET IN FATTY-ACID OXIDATION DISORDERS - HOW CAN WE MINIMIZE MORBIDITY AND MORTALITY

      Journal of inherited metabolic disease
    72. BARIC I; ZSCHOCKE J; CHRISTENSEN E; DURAN M; GOODMAN SI; LEONARD JV; MULLER E; MORTON DH; SUPERTIFURGA A; HOFFMANN GF
      DIAGNOSIS AND MANAGEMENT OF GLUTARIC ACIDURIA TYPE-I

      Journal of inherited metabolic disease
    73. VENIZELOS N; VONDOBELN U; HAGENFELDT L
      FATTY-ACID OXIDATION IN FIBROBLASTS FROM PATIENTS WITH DEFECTS IN BETA-OXIDATION AND IN THE RESPIRATORY-CHAIN

      Journal of inherited metabolic disease
    74. BUSQUETS C; COLL MJ; CHRISTENSEN E; CAMPISTOL J; CLUSELLAS N; VILASECA MA; RIBES A
      FEASIBILITY OF MOLECULAR PRENATAL-DIAGNOSIS OF GLUTARIC ACIDURIA TYPE-I IN CHORIONIC VILLI

      Journal of inherited metabolic disease
    75. PUST B; BERGER A; LEHNERT W; WANDERS RJA
      EARLY MANIFESTATION OF VERY-LONG-CHAIN AC YL-COA DEHYDROGENASE-DEFICIENCY (VLCADD) WITH A FATAL COMPLICATION

      Monatsschrift fur Kinderheilkunde
    76. HOSTETLER ED; FALLIS S; MCCARTHY TJ; WELCH MJ; KATZENELLENBOGEN JA
      IMPROVED METHODS FOR THE SYNTHESIS OF [OMEGA-C-11]PALMITIC ACID

      Journal of organic chemistry
    77. WILLIARD DE; KADUCE TL; HARMON SD; SPECTOR AA
      CONVERSION OF EICOSAPENTAENOIC ACID TO CHAIN-SHORTENED OMEGA-3-FATTY-ACID METABOLITES BY PEROXISOMAL OXIDATION

      Journal of lipid research
    78. COSTA CG; DORLAND L; HOLWERDA U; DEALMEIDA IT; POLLTHE BT; JAKOBS C; DURAN M
      SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS

      Clinical chemistry
    79. Dezateux, C
      Evaluating newborn screening programmes based on dried blood spots: futurechallenges

      BRITISH MEDICAL BULLETIN
    80. POLLITT RJ; LEONARD JV
      PROSPECTIVE SURVEILLANCE STUDY OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN THE UK

      Archives of Disease in Childhood
    81. ORII KE; AOYAMA T; WAKUI K; FUKUSHIMA Y; MIYAJIMA H; YAMAGUCHI S; ORII T; KONDO N; HASHIMOTO T
      GENOMIC AND MUTATIONAL ANALYSIS OF THE MITOCHONDRIAL TRIFUNCTIONAL PROTEIN BETA-SUBUNIT (HADHB) GENE IN PATIENTS WITH TRIFUNCTIONAL PROTEIN-DEFICIENCY

      Human molecular genetics
    82. GARCIASILVA MT; RIBES A; CAMPOS Y; GARAVAGLIA B; ARENAS J
      SYNDROME OF ENCEPHALOPATHY, PETECHIAE, AND ETHYLMALONIC ACIDURIA

      Pediatric neurology
    83. AOYAMA T; WAKUI K; ORII KE; HASHIMOTO T; FUKUSHIMA Y
      FLUORESCENCE IN-SITU HYBRIDIZATION MAPPING OF THE ALPHA-SUBUNIT AND BETA-SUBUNIT (HADHA AND HADHB) OF HUMAN MITOCHONDRIAL FATTY-ACID BETA-OXIDATION MULTIENZYME COMPLEX TO 2P23 AND THEIR EVOLUTION

      Cytogenetics and cell genetics
    84. NAGEL JD; HAVERKAMP F; LENTZE MJ
      MITOCHONDRIAL DISEASES

      Klinische Padiatrie
    85. MUNTAU AC; ROSCHINGER W; PFLUGER T; ENDERS A; HOFFMANN GF
      GLUTARIC ACIDURIA TYPE-I - 2 CASES OF MIS DIAGNOSIS AS BATTERED-CHILDSYNDROME AND THE IMPORTANCE OF PRESYMPTOMATIC DIAGNOSIS AND TREATMENT

      Monatsschrift fur Kinderheilkunde
    86. ZSCHOCKE J; BARIC I; HOFFMANN GF
      RATIONAL DIAGNOSIS OF GLUTARIC ACIDURIA T YPE-I

      Monatsschrift fur Kinderheilkunde
    87. FRECKMANN ML; THORBURN DR; KIRBY DM; KAMATH KR; HAMMOND J; DENNETT X; CHRISTODOULOU J
      MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN DEFECT PRESENTING AS HYPOGLYCEMIA

      The Journal of pediatrics
    88. COSTA CG; STRUYS EA; BOOTSMA A; TENBRINK HJ; DORLAND L; DEALMEIDA IT; DURAN M; JAKOBS C
      QUANTITATIVE-ANALYSIS OF PLASMA ACYLCARNITINES USING GAS-CHROMATOGRAPHY CHEMICAL-IONIZATION MASS FRAGMENTOGRAPHY

      Journal of lipid research
    89. CHACE DH; HILLMAN SL; VANHOVE JLK; NAYLOR EW
      RAPID DIAGNOSIS OF MCAD DEFICIENCY - QUANTITATIVE-ANALYSIS OF OCTANOYLCARNITINE AND OTHER ACYLCARNITINES IN NEWBORN BLOOD SPOTS BY TANDEM MASS-SPECTROMETRY

      Clinical chemistry
    90. BOLES RG; BOESEL C; RINALDO P
      SUDDEN-DEATH BEYOND SIDS

      PEDIATRIC PATHOLOGY & LABORATORY MEDICINE
    91. STRAUSS AW
      DEFECTS OF MITOCHONDRIAL PROTEINS AND PEDIATRIC HEART-DISEASE

      Progress in pediatric cardiology
    92. LECOQ I; MALLET E; BONTE JB; TRAVERT G
      THE A985 TO G-MUTATION OF THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE AND SUDDEN-INFANT-DEATH-SYNDROME IN NORMANDY

      Acta paediatrica
    93. KEMP PM; LITTLE BB; BOST RO; DAWSON DB
      WHOLE-BLOOD LEVELS OF DODECANOIC ACID, A ROUTINELY DETECTABLE FORENSIC MARKER FOR A GENETIC-DISEASE OFTEN MISDIAGNOSED AS SUDDEN-INFANT-DEATH-SYNDROME (SIDS) - MCAD DEFICIENCY

      The American journal of forensic medicine and pathology
    94. HOFFMANN GF; ATHANASSOPOULOS S; BURLINA AB; DURAN M; DEKLERK JBC; LEHNERT W; LEONARD JV; MONAVARI AA; MULLER E; MUNTAU AC; NAUGHTEN ER; PLECKOSTARTING B; SUPERTIFURGA A; ZSCHOCKE J; CHRISTENSEN E
      CLINICAL COURSE, EARLY DIAGNOSIS, TREATMENT, AND PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY

      Neuropediatrics
    95. 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
    96. TSERNG KY; GRIFFIN RL; KERR DS
      DISTINCTION OF DICARBOXYLIC ACIDURIA DUE TO MEDIUM-CHAIN TRIGLYCERIDEFEEDING FROM THAT DUE TO ABNORMAL FATTY-ACID OXIDATION AND FASTING INCHILDREN

      Metabolism, clinical and experimental
    97. SCHWARTZ ML; COX GF; LIN AE; KORSON MS; PEREZATAYDE A; LACRO RV; LIPSHULTZ SE
      CLINICAL APPROACH TO GENETIC CARDIOMYOPATHY IN CHILDREN

      Circulation
    98. WALTER JH
      L-CARNITINE

      Archives of Disease in Childhood
    99. MERKLER DJ; MERKLER KA; STERN W; FLEMING FF
      FATTY-ACID AMIDE BIOSYNTHESIS - A POSSIBLE NEW ROLE FOR PEPTIDYLGLYCINE ALPHA-AMIDATING ENZYME AND ACYL-COENZYME A-GLYCINE N-ACYLTRANSFERASE

      Archives of biochemistry and biophysics
    100. SEWELL AC; BOHLES HJ
      ACYLCARNITINES IN INTERMEDIARY METABOLISM

      European journal of pediatrics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/08/20 alle ore 18:44:49