Generalised uridine diphosphate galactose-4-epimerase deficiency
| Autor: | G T N Besley, J B Holton, M A Cleary, R E P Roberts, J. E. Wraith, John H. Walter, R MacFaul |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
Galactosemias Male medicine.medical_specialty Adolescent Uridine diphosphate galactose-4-epimerase Consanguinity Epimerase deficiency Sensorineural deafness UDPglucose 4-Epimerase Moderate learning difficulties Internal medicine Female patient Humans Learning disorders Medicine Child Growth Disorders Learning Disabilities business.industry Galactosemia Original Articles Prognosis medicine.disease Endocrinology Child Preschool Pediatrics Perinatology and Child Health Female business |
| Zdroj: | Archives of Disease in Childhood. 80:374-376 |
| ISSN: | 1468-2044 0003-9888 |
| DOI: | 10.1136/adc.80.4.374 |
| Popis: | The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features. The two older female patients have normal pubertal development. |
| Databáze: | OpenAIRE |
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