Mucolipidosis II (I - Cell disease)

Journal of Postgraduate Medicine

Volumn 51, Issue 3, 2005, Pages 232-233

  Kumar, T S ^a   Scott, J X ^a   Raghupathy, P ^a   Moses, P D ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT;

ANTEVERTED NOSTRIL; ANTHROPOMETRY; ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DIARRHEA; FACE MALFORMATION; FAILURE TO THRIVE; FAMILY; FEMALE; HEAD CIRCUMFERENCE; HOSPITALIZATION; HUMAN; MUCOLIPIDOSIS TYPE 2; PRESCHOOL CHILD; RESPIRATORY TRACT INFECTION;

CHILD, PRESCHOOL; FEMALE; HUMANS; MUCOLIPIDOSES;

EID: 28844435368     PISSN: 00223859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Leroy JG, Demars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 1967;157:804-6.
2. Kabra M, Gulati S, Kaur M, Sharma J, Singh A, Chopra V, et al. I- cell disease. Indian J Pediatr 2000;67:683-7.
3. Ben-Yoseph, Mitchell DA, Yager RM, Wei JT, Chen TH, Shih Ly. Mucolipidosis I and III variants with normal N-acteylglucosamine 1-phosphotransferase activity towards alpha-methylmannoside are due to nonallelic mutations. Am J Hum Genet 1992;50:137-44.
4. Terashima Y, Tsuda K, Isomura S, Suguria Y, Nogami H. I-cell disease. Report of three cases. Am J Dis Child 1975;129:1083-91.
5. Lemaitre L, Remy J, Ferriaux JP, Dhont JL, Walbaum R. Radiological signs of Mucolipidosis II. A study of nine cases. Pediatr Radiol 1978;7:97-105.