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Arylsulfatase A pseudodeficiency in healthy brazilian individuals

Pedron, Cristina Grimaldi; Gaspar, Pedro de Abreu; Giugliani, Roberto; Pereira, Maria Luiza Saraiva (2010)

NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Sgobbi de Souza, Paulo Victor [UNIFESP]; Bortholin, Thiago [UNIFESP]; Burlin, Stenio [UNIFESP]; Monteiro Naylor, Fernando George [UNIFESP]; de Rezende Pinto, Wladimir Bocca Vieira [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP] (Georg Thieme Verlag Kg, 2018)

Genetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited ...

Multiple cranial nerve enhancement: A new MR imaging finding in metachromatic leukodystrophy

Maia, Antonio Carlos Martins [UNIFESP]; Rocha, Antônio José da [UNIFESP]; Silva, Carlos Jorge da; Rosemberg, Sergio (Amer Soc Neuroradiology, 2007-06-01)

Frontal lobes white matter abnormalities mimicking cystic leukodystrophy in Wilson's disease

Rezende Filho, Flavio Moura [UNIFESP]; Rocha, Eva [UNIFESP]; Dutra, Livia Almeida [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP] (Assoc Arquivos Neuro- Psiquiatria, 2017)

Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL

Sgobbi de Souza, Paulo Victor [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP] (Assoc Arquivos Neuro- Psiquiatria, 2016)

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Ortega-Recalde, Oscar; Patiño, Liliana Catherine; Atuesta, Juan Jaime; Rivera-Nieto, Carolina; Mateus, Heidi Eliana; van der Knaap, Marjo S.; Fonseca-Mendoza, Dora Janeth; Restrepo, Carlos M.; Laissue, Paul

NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T ...

Metachromatic leukodystrophy: Diagnosis and treatment challenges

Sanchez-Alvarez, Nayibe Tatiana; Bautista-Niño, Paula Katherine; Trejos Suárez, Juanita; Serrano-Diaz, Norma Cecilia (Ecuador, 2021-06-03)

Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient. Currently, there is no treatment ...

Optic nerve enlargement and leukodystrophy : an unusual finding of the infantile form of Krabbe disease

Garcia, Antonio Milton Lima; Morais, Norma Martins de Menezes; Ohlweiler, Lygia; Winckler, Maria Isabel Bragatti; Ranzan, Josiane; Artigalas, Osvaldo Alfonso Pinto; Pinto, Luise Lapagesse de Camargo; Netto, Cristina Brinckmann Oliveira; Prolla, Patrícia Ashton; Vedolin, Leonardo Modesti; Riesgo, Rudimar dos Santos; Rotta, Newra Tellechea (2011)

004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations

Rivera-Nieto, C.; Mateus, H.; Ortega-Recalde, O.; Fonseca-Mendoza, Dora Janeth; Patiño, L.; Restrepo, Carlos M.; Van der Knaap, M.; Laissue, P.

Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive ...

Neuroimaging Evolution in a Patient With Type 1 Glutaric Aciduria in Treatment Since 7 Months of Age

Correa, L. N.; Baron, H.

Introduction: Glutaric aciduria type 1 is a leukodystrophy. The MRI features can be characteristic and help to establish an early diagnosis. Objectives: A clinical and IRM correlation is performed chronologically after the ...