Cargando…

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

OBJECTIVE: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. METHODS: Specific data related to epidemiology, phenotype, diagnosis and treatm...

Descripción completa

Detalles Bibliográficos
Autores principales:	Furlan, Fernanda Luiza Schumacher, Lemes, Macleise Andres, Suguimatsu, Ligia Cecilia Fuverki, Pires, Carolina Teixeira Furquim, Santos, Mara Lucia Schmitz Ferreira
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade de Pediatria de São Paulo 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821490/ https://www.ncbi.nlm.nih.gov/pubmed/31241695 http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00015

Ejemplares similares

Bezafibrate for X-Linked Adrenoleukodystrophy
por: Engelen, Marc, et al.
Publicado: (2012)

Pathophysiology of X-linked adrenoleukodystrophy()
por: Berger, J., et al.
Publicado: (2014)

X-linked adrenoleukodystrophy in 8 patients
por: Meng, Zhe, et al.
Publicado: (2015)

An unusual presentation of X-linked adrenoleukodystrophy
por: Suryawanshi, Avinash, et al.
Publicado: (2015)

Newborn Screening for X-Linked Adrenoleukodystrophy
por: Moser, Ann B., et al.
Publicado: (2016)

Glutathione imbalance in patients with X-linked adrenoleukodystrophy()
por: Petrillo, Sara, et al.
Publicado: (2013)

Impaired plasticity of macrophages in X-linked adrenoleukodystrophy
por: Weinhofer, Isabelle, et al.
Publicado: (2018)

Isolated Cerebellar Involvement in X-linked Adrenoleukodystrophy
por: Mansoor, C. A.
Publicado: (2020)

X-linked adrenoleukodystrophy and primary adrenal insufficiency
por: Cappa, Marco, et al.
Publicado: (2023)

The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family
por: KARIMZADEH, Parvaneh, et al.
Publicado: (2016)

Childhood cerebral adrenoleukodystrophy
por: Mittal, Aliza, et al.
Publicado: (2014)

Management of X-linked adrenoleukodystrophy in Morocco: actual situation
por: Benjelloun, F. Z. Madani, et al.
Publicado: (2017)

The value of the speech audiometry in diagnosis of X-linked adrenoleukodystrophy
por: Chen, Jing-Jing, et al.
Publicado: (2016)

Disease progression in women with X-linked adrenoleukodystrophy is slow
por: Huffnagel, Irene C., et al.
Publicado: (2019)

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy
por: Zierfuss, Bettina, et al.
Publicado: (2020)

Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy
por: Palakuzhiyil, Shruti V, et al.
Publicado: (2020)

The Role of Oxidative Stress and Inflammation in X-Link Adrenoleukodystrophy
por: Yu, Jiayu, et al.
Publicado: (2022)

Pain Study in X-Linked Adrenoleukodystrophy in Males and Females
por: Bachiocco, Valeria, et al.
Publicado: (2021)

Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts
por: Petrillo, Sara, et al.
Publicado: (2022)

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
por: Albersen, Monique, et al.
Publicado: (2022)

Multiple sclerosis in an adrenoleukodystrophy carrier
por: Jenkins, Thomas, et al.
Publicado: (2011)

Anesthesia in a child with adrenoleukodystrophy
por: Yang, Hun-Ju, et al.
Publicado: (2014)

Evolution of adrenoleukodystrophy model systems
por: Montoro, Roberto, et al.
Publicado: (2021)

A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
por: Chang, Crystal, et al.
Publicado: (2022)

X-linked adrenoleukodystrophy presenting as attention deficit hyperactivity disorder
por: Ilango, T. Siva, et al.
Publicado: (2015)

Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female
por: Jack, Gyda Hlin Skuladottir, et al.
Publicado: (2013)

X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations
por: Shamim, Daniah, et al.
Publicado: (2017)

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy
por: Jacob, Ron, et al.
Publicado: (2015)

Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California
por: Schwan, Katharina, et al.
Publicado: (2019)

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
por: Dekker, M. C. J., et al.
Publicado: (2019)

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina
por: Lee, Stacey, et al.
Publicado: (2020)

Magnetic resonance spectroscopy as marker for neurodegeneration in X-linked adrenoleukodystrophy
por: van de Stadt, Stephanie I.W., et al.
Publicado: (2021)

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
por: Burton, Barbara K., et al.
Publicado: (2022)

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
por: Moser, Ann B., et al.
Publicado: (2022)

Role of MRI in X-linked adrenoleukodystrophy—A case report
por: Aryal, Sajiva, et al.
Publicado: (2022)

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
por: Bonaventura, Eleonora, et al.
Publicado: (2023)

Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy
por: Płatek, Teresa, et al.
Publicado: (2018)

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy
por: Orchard, Paul J, et al.
Publicado: (2011)

Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy
por: Kachwala, Isha, et al.
Publicado: (2022)

Gait Difficulties and Postural Instability in Adrenoleukodystrophy
por: Godbole, Neha P., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_s9es62f78ji3vpaso30j85usf3