1.
Minerva Pediatr
; 30(22): 1761-6, 1978 Nov 30.
Artigo
em Italiano
| MEDLINE
| ID: mdl-569251
Assuntos
Artrite Juvenil/complicações , Oftalmopatias/etiologia , Corticosteroides/efeitos adversos , Criança , Pré-Escolar , Cloroquina/efeitos adversos , Conjuntivite/etiologia , Oftalmopatias/induzido quimicamente , Feminino , Ouro/efeitos adversos , Humanos , Ceratite/etiologia , Masculino , Penicilamina/efeitos adversos , Esclera , Uveíte/etiologia , Uveíte Anterior/etiologia
2.
Minerva Pediatr
; 30(2): 147-53, 1978 Jan 31.
Artigo
em Italiano
| MEDLINE
| ID: mdl-642880
Assuntos
Neoplasias Orbitárias , Rabdomiossarcoma , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
3.
Helv Paediatr Acta
; 32(2): 173-80, 1977 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33934
RESUMO
Clinical and biochemical evidence of oculocutaneous tyrosinosis, a rare disease due to hepatic soluble tyrosine aminotransferase (STAT) deficiency, was found in a 3 1/2-year-old girl and in her maternal aunt. Different expressivity of this disease, resulting in clinical heterogeneity, is shown to occur commonly according to the cases reported in this as well as in previous studies. The metabolic pathways leading to the unexpected excretion of phenolic acids in urine are reviewed, and the need for early diagnosis and dietary treatment, in order to prevent corneal clouding and brain damage is finally stressed.
