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1.
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia.
Rossi, Malco; Medina Escobar, Alex; Ameghino, Lucia; Merello, Marcelo.
J Neurol Sci ; 378: 52-54, 2017 07 15.
Article in English | MEDLINE | ID: mdl-28566178

Subject(s)
Congenital Disorders of Glycosylation/physiopathology , Phosphotransferases (Phosphomutases)/deficiency , Torticollis/physiopathology , Adult , Congenital Disorders of Glycosylation/diagnosis , Congenital Disorders of Glycosylation/drug therapy , Diagnosis, Differential , Female , Humans , Phenotype , Siblings , Torticollis/diagnosis , Torticollis/drug therapy
2.
Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.
Brum, Jaime Moritz; Rizzo, Isabela Maria Pinto de Oliveira; Mello, Walquiria Domingues de; Speck-Martins, Carlos Eduardo.
Arq Neuropsiquiatr ; 66(3A): 545-8, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18813717

Subject(s)
Brain Diseases/pathology , Brain/pathology , Congenital Disorders of Glycosylation/pathology , Glycoproteins , Phosphotransferases (Phosphomutases)/deficiency , Atrophy , Child , Electroencephalography , Evoked Potentials , Female , Glycoproteins/blood , Glycoproteins/deficiency , Glycosylation , Humans , Magnetic Resonance Imaging , Phosphotransferases (Phosphomutases)/analysis
3.
Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement / Distúrbio congênito da glicosilação tipo Ia: encefalopatia não-progressiva associada a envolvimento multi-sistêmico
Brum, Jaime Moritz; Rizzo, Isabela Maria Pinto de Oliveira; Mello, Walquiria Domingues de; Speck-Martins, Carlos Eduardo.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;66(3a): 545-548, set. 2008. ilus, tab
Article in English | LILACS | ID: lil-492594

Subject(s)
Child , Female , Humans , Brain Diseases/pathology , Brain/pathology , Congenital Disorders of Glycosylation/pathology , Glycoproteins , Phosphotransferases (Phosphomutases)/deficiency , Atrophy , Electroencephalography , Evoked Potentials , Glycosylation , Glycoproteins/blood , Glycoproteins/deficiency , Magnetic Resonance Imaging , Phosphotransferases (Phosphomutases)/analysis
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