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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Sharma, Suvasini Jiménez, Rosa Torres Aneja, Satinder Garcia, Marta G. Sethi, Gulshan R. |
| Spatial Coverage | India |
| Description | Country affiliation: India Author Affiliation: Sharma S ( Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India. sharma.suvasini@gmail.com) |
| Abstract | The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene. |
| File Format | HTM / HTML |
| ISSN | 00195456 |
| Issue Number | 11 |
| Volume Number | 79 |
| e-ISSN | 09737693 |
| Journal | The Indian Journal of Pediatrics |
| Language | English |
| Publisher | Springer |
| Publisher Date | 2012-11-01 |
| Publisher Place | India |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Pediatrics Frameshift Mutation Hypoxanthine Phosphoribosyltransferase Genetics Lesch-nyhan Syndrome Sequence Deletion Adolescent Base Sequence Genetic Markers Genetic Testing Humans India Infant Diagnosis Male Case Reports Journal Article |
| Content Type | Text |
| Resource Type | Case study Article |
| Subject | Pediatrics, Perinatology and Child Health |
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