Cargando…

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two neurologic phenotypes: a rapidly progressive demyel...

Descripción completa

Detalles Bibliográficos
Autores principales:	Baker, Craig V., Cady Keller, Alyssa, Lutz, Richard, Eveans, Karen, Baumert, Krystal, DiPerna, James C., Rizzo, William B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149921/ https://www.ncbi.nlm.nih.gov/pubmed/35645283 http://dx.doi.org/10.3390/ijns8020029

Ejemplares similares

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
por: Priestley, Jessica R. C., et al.
Publicado: (2022)

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

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

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

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

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

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

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

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

A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy
por: Wiens, Katie, et al.
Publicado: (2019)

X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies
por: Turk, Bela R., et al.
Publicado: (2020)

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

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 Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode
por: Teber, Tarek A., et al.
Publicado: (2022)

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
por: Chen, Hui-An, et al.
Publicado: (2022)

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
por: Prinzi, Julia, et al.
Publicado: (2023)

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

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
por: Barendsen, Rinse W., et al.
Publicado: (2020)

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)

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns
por: Hall, Patricia L., et al.
Publicado: (2020)

Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme
por: Bessey, Alice, et al.
Publicado: (2018)

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
por: Barendsen, Rinse W., et al.
Publicado: (2021)

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)

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
por: Furlan, Fernanda Luiza Schumacher, 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)

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases
por: Foschi, Matteo, et al.
Publicado: (2019)

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)

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

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

Cannot write session to /tmp/vufind_sessions/sess_j6ccjjbnurtgir6t83drlubnno