6 documents found, page 1 of 1

Défice do Complexo da Piruvato Desidrogenase (cPDH)

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic p...

To understand the basis for the clinical heterogeneity of phenylalanine hydroxylase deficiency among Portuguese hyperphenylalaninemic patients, genotype-phenotype correlations were established. A group of 61 patients was completely genotyped, leading to t

Branched chain amino acid diseases.

The authors present 19 cases of branched-chain AA catabolism disease: 9 Maple Syrup Urine Diseases, 6 Methylmalonic Acidemias, 2 Propionic Acidemias, 1 case of 3-OH-3-methylglutaryl-CoA-lyase deficiency and another of 2-methyl-ketoacetyl-CoA-thiolase deficiency. Fifteen are early neonatal forms and in 4 the onset occurred later. Fifteen patients (78.9%) needed one or several extra-corporal procedures either in ...

Phenylketonuria--physical and mental development of phenylketonuric children su...

The Authors present the first clinical and laboratory assessment of 6 children with PKU, diagnosed and treated early, as a result of the application of the Early Diagnosis Programme in the southern part of the country, from April 1984 to November 1986. The main protein source used in the feeding of these patients was a phenylalanine-free mixture of amino-acids, with an excellent tolerance.; The Authors present ...

Ceroid-lipofuscinosis: ultrastructural study of 8 cases.

The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type. The clinical diagnosis of all cases was confirmed by the electron microscopy analysis of the peripheral blood lymphocytes and biopsy material from the skin, palpebral conjunctiva, skeletal muscle and rectal mucosa. Our observati...

Cerolipofuscinose: Estudo Ultrastrutural de 8 Casos

Os autores apresentam as principais características clínicas e descrevem os achados ultrastruturais de 8 casos de cerolipofuscinose (CLF)dos tipo infantil tardio (5 casos) e juvenil (3 casos) cujo diagnóstico clínico foi confirmado pela observação em microscopia electrónica de microbuffycoats de linfócitos do sangue periférico, e de biópsias de músculo estriado, pele, conjuntiva palpebral e mucosa rectal. A obs...