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Your search keyword '"Rojas, ML"' showing total 2 results
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2 results on '"Rojas, ML"'

1. [Angelman syndrome. Early diagnosis].

Author

Campos Tristán C, Gutiérrez Solana LG, Martín Casillas F, Ruiz-Falcó Rojas ML, López-Terradas JM, and Vázquez-Cano J

Subjects
Age Factors, Angelman Syndrome genetics, Female, Humans, Infant, Karyotyping, Phenotype, Angelman Syndrome diagnosis
Abstract

We report two patients who were less than two years old that were diagnosed as having Angelman syndrome. Cytogenetic confirmation of the disease was performed. We emphasize clinical and electroencephalographic features in infants that allow an early diagnosis of this syndrome and allow for prompt genetic counseling.

Published
1993

2. [Lafora disease. Report of a new case diagnosed by biopsy from the axillary skin].

Author

Ruiz-Falcó Rojas ML, Gutiérrez-Solana LG, Arias Alvarez MA, Barrio Nicolás A, and López-Terradas Covisa JM

Subjects
Axilla, Biopsy, Carbamazepine therapeutic use, Child, Epilepsies, Myoclonic drug therapy, Epilepsies, Myoclonic pathology, Epilepsy, Tonic-Clonic drug therapy, Humans, Inclusion Bodies, Male, Phenobarbital therapeutic use, Seizures drug therapy, Seizures etiology, Skin pathology, Valproic Acid therapeutic use, Eccrine Glands pathology, Epilepsies, Myoclonic diagnosis
Published
1993

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