Triosephosphate isomerase deficiency: A patient with Val231Met mutation

Pediatric Neurology

Volumn 44, Issue 2, 2011, Pages 139-142

  Serdaroglu, Gul ^a   Aydinok, Yesim ^a   Yilmaz, Sanem ^a   Manco, Licinio ^b   Özer, Erdener ^c  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c DOKUZ EYLUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GENOMIC DNA; GLYCOLYTIC ENZYME; LACTATE DEHYDROGENASE; TRIOSEPHOSPHATE ISOMERASE; UROBILINOGEN;

ABDOMINAL RADIOGRAPHY; ADOLESCENT; ANEMIA; ARM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BACTERIAL INFECTION; BETA THALASSEMIA; BILIRUBIN BLOOD LEVEL; BLOOD SAMPLING; BLOOD SMEAR; CASE REPORT; CLINICAL FEATURE; ELECTROPHYSIOLOGY; ENZYME DEFICIENCY; ERYTHROCYTE; ERYTHROCYTE TRANSFUSION; GENE MUTATION; GIANT AXONAL NEUROPATHY; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HEMOLYTIC ANEMIA; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LEUKOCYTE COUNT; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MENTAL DETERIORATION; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NERVE DEGENERATION; NEWBORN JAUNDICE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECURRENT INFECTION; RETICULOCYTE COUNT; SENSORY NERVE CONDUCTION; TENDON REFLEX; THROMBOCYTE COUNT; TIBIAL NERVE; TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; WALKING DIFFICULTY;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; HUMANS; MALE; METHIONINE; TRIOSE-PHOSPHATE ISOMERASE; VALINE;

EID: 79251587232     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.08.016     Document Type: Article

References (11)

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