[Tyrosinosis. A difficult diagnosis of late infancy]

Autor:	M F, Bertolani, A M, Pellegrino, C, Summa, E, Scalera
Rok vydání:	1990
Předmět:	Liver Cirrhosis Neuroblastoma Hydrolases Intellectual Disability Humans Infant Tyrosine Female Kidney Diseases Diagnostic Errors Amino Acid Metabolism Inborn Errors Hypophosphatemia Familial Liver Transplantation
Zdroj:	Minerva pediatrica. 42(1-2)
ISSN:	0026-4946
Popis:	The Authors report an unusual case of tyrosinosis in which neonatal metabolic screenings were not performed and the diagnosis was made only at 4 years of age. The diet induced an improvement of cirrhosis but did not influence renal tubular damage. The authors stress the diagnostic differential elements against other cirrhogenic metabolic diseases and emphasize the prospectives of liver transplantation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::814619e52ebfa7b5ab07266e8faf6420 https://pubmed.ncbi.nlm.nih.gov/2159592 Zobrazit plný text záznamu