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Titolo:
A CASE OF X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME - ANALYSIS OF HEMOGLOBIN BY AN AUTOMATED GLYCATED HEMOGLOBIN ANALYZER
Autore:
KUNO T; IDEGUCHI H; YOSHIDA N; MASUYAMA T; OHTA M; NISHIMURA S; TASAKI H; MIYAZAKI S; HARA H; MATSUMOTO K;
Indirizzi:
SAGA MED SCH,DEPT PEDIAT SAGA 849 JAPAN FUKUOKA UNIV HOSP,DEPT CLIN CHEM & LAB MED FUKUOKA JAPAN SAGA SEISHI GAKUEN SAGA JAPAN NATL SAGA HOSP SAGA JAPAN
Titolo Testata:
Acta Paediatrica Japonica Overseas Edition
fascicolo: 5, volume: 39, anno: 1997,
pagine: 615 - 618
SICI:
0374-5600(1997)39:5<615:ACOXAM>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
ATR-X; LINKAGE ANALYSIS; LOCALIZATION; FAMILY;
Keywords:
AUTOMATED GLYCATED HEMOGLOBIN ANALYZER; HEMOGLOBIN H; HYPOGONADISM; X-LINKED ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
T. Kuno et al., "A CASE OF X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME - ANALYSIS OF HEMOGLOBIN BY AN AUTOMATED GLYCATED HEMOGLOBIN ANALYZER", Acta Paediatrica Japonica Overseas Edition, 39(5), 1997, pp. 615-618

Abstract

A 5-year-old male patient with X-linked alpha-thalassemia/mental retardation syndrome is reported. He showed multiple minor anomalies including characteristic facial abnormalities, alpha-thalassemia, severe mental retardation, and hypogonadism. Analysis of his hemoglobin by highperformance liquid chromatography using an automated glycated hemoglobin analyzer revealed an abnormal peak. Identification of an abnormal peak by an automated glycated hemoglobin analyzer will aid in the diagnosis of patients with X-linked alpha-thalassemia/mental retardation syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 11:13:12