FARBER'S DISEASE AS A CERAMIDOSIS: CLINICAL, RADIOLOGICAL AND BIOCHEMICAL ASPECTS
| Autor: | N. Cremer, G. Jonniaux, M. Toppet, S. Pelc, Marianne Tondeur, E. Vamos-Hurwitz |
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| Rok vydání: | 1978 |
| Předmět: |
Pathology
medicine.medical_specialty Physiology Disease Consanguinity Ceramides Lipidoses Cultured fibroblast Autosomal recessive trait Intellectual Disability Elbow Joint Humans Medicine Family history Lung Early onset Respiratory Distress Syndrome Newborn business.industry Infant Newborn Infant Syndrome General Medicine Ceramidase Pedigree Radiography Radiological weapon Pediatrics Perinatology and Child Health Female Joint Diseases business |
| Zdroj: | Acta Paediatrica. 67:113-119 |
| ISSN: | 1651-2227 0803-5253 |
| DOI: | 10.1111/j.1651-2227.1978.tb16287.x |
| Popis: | A case of Farber's disease associated with athyreosis is reported in a Belgian infant born from consanguineous parents. A detailed clinical observation made from the early onset of symptoms until death of the patient at age of 22 months, together with radiological, morphological and biochemical data confirmed the diagnosis of Farber's disease and its specific storage process. Cultured fibroblast studies disclosed an abnormal catabolism of ceramides, presumably related to the deficiency in lysosomal ceramidase. Family history confirms that the disease is inherited as an autosomal recessive trait. |
| Databáze: | OpenAIRE |
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