Search Results - "Puga, Ana Cristina S."
-
1
Infantile Systemic Hyalinosis: report of three unrelated Brazilian children and review of the literature
Published in Clinical dysmorphology (01-10-2004)“…Infantile Systemic Hyalinosis (ISH) is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles…”
Get full text
Journal Article -
2
Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil
Published in Arquivos de neuro-psiquiatria (01-09-2000)“…The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three…”
Get full text
Journal Article -
3
Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil Lipofuscinoses ceróides neuronais: estudo clínico e morfológico de 17 pacientes do Sul do Brasil
Published in Arquivos de neuro-psiquiatria (01-09-2000)“…The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three…”
Get full text
Journal Article