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Volumn 22, Issue 3, 2007, Pages 198-202

Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: A report of two cases

Author keywords

Leroy I cell; Prenatal diagnosis; Short femur

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE BOWING; CASE REPORT; DIFFERENTIAL DIAGNOSIS; ENZYME ANALYSIS; ENZYME BLOOD LEVEL; FAMILY HISTORY; FEMALE; FEMUR; GESTATIONAL AGE; HUMAN; MALE; MUCOLIPIDOSIS TYPE 2; NEWBORN; PARENT; PERINATAL PERIOD; PLASMA; PRIORITY JOURNAL; ULTRASOUND;

EID: 34247176156     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000098717     Document Type: Article
Times cited : (7)

References (12)
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    • Jeanty P, Romero R: Percentiles for femur, tibia, and fibula lengths;in Obstetrical Ultrasound. New York, McGraw Hill, 1984.
    • (1984) Obstetrical Ultrasound
    • Jeanty, P.1    Romero, R.2
  • 4
    • 34247177253 scopus 로고
    • Percentiles for humerus, ulna, and radius lengths
    • New York, McGraw Hill
    • Jeanty P, Romero R: Percentiles for humerus, ulna, and radius lengths; in Obstetrical Ultrasound. New York, McGraw Hill, 1984.
    • (1984) Obstetrical Ultrasound
    • Jeanty, P.1    Romero, R.2
  • 5
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    • Lysosomal storage disorders: Diagnostic dilemmas and prospects for therapy
    • Wenger DA, et al: Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy. Genet Med 2002;4:412-419
    • (2002) Genet Med , vol.4 , pp. 412-419
    • Wenger, D.A.1
  • 6
    • 0014716309 scopus 로고
    • The genetic mucolipidoses. Diagnosis and differential diagnosis
    • Spranger JW, Wiedermann HR: The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik 1970;9:113-139.
    • (1970) Humangenetik , vol.9 , pp. 113-139
    • Spranger, J.W.1    Wiedermann, H.R.2
  • 11
  • 12
    • 0032780351 scopus 로고    scopus 로고
    • The frequency of lysosomal storage diseases in the Netherlands
    • Poorthuis BJ, Wevers RA, Kleijer WJ: The frequency of lysosomal storage diseases in the Netherlands. Hum Genet 1999;105:151-156.
    • (1999) Hum Genet , vol.105 , pp. 151-156
    • Poorthuis, B.J.1    Wevers, R.A.2    Kleijer, W.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.