1.
J Pediatr Gastroenterol Nutr
; 20(1): 98-101, 1995 Jan.
Article
in English
| MEDLINE
| ID: mdl-7533834
Subject(s)
Cholestasis , Microbodies/physiology , Refsum Disease/diagnosis , Biopsy, Needle , Cholestasis/pathology , Fatty Acids/blood , Female , Humans , Infant , Israel , Liver/pathology , Refsum Disease/pathology
2.
Dev Med Child Neurol
; 33(9): 824-8, 1991 Sep.
Article
in English
| MEDLINE
| ID: mdl-1936635
ABSTRACT
This is a report of two patients with Canavan disease from the Federal Republic of Germany. One is a severely retarded, macrocephalic boy, who had the characteristic laboratory findings of Canavan disease and progressive leucodystrophy on neuro-imaging. The other is retarded, with signs of a cerebral movement disorder showing no deterioration during the first 15 months. The significance of aspartoacylase deficiency in Canavan disease for differential diagnosis, genetic counselling and prenatal diagnosis of leucodystrophy is discussed.
Subject(s)
Amidohydrolases/deficiency , Amino Acid Metabolism, Inborn Errors/genetics , Diffuse Cerebral Sclerosis of Schilder/genetics , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/enzymology , Brain/pathology , Child, Preschool , Consanguinity , Diffuse Cerebral Sclerosis of Schilder/diagnosis , Diffuse Cerebral Sclerosis of Schilder/enzymology , Genetic Carrier Screening , Humans , Infant , Magnetic Resonance Imaging , Male
3.
Ann Pediatr (Paris)
; 35(8): 580-2, 1988 Oct.
Article
in French
| MEDLINE
| ID: mdl-3202593
