Cargando…

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its inst...

Descripción completa

Detalles Bibliográficos
Autores principales:	Moser, Ann B., Seeger, Elisa, Raymond, Gerald V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Commentary
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884000/ https://www.ncbi.nlm.nih.gov/pubmed/35225938 http://dx.doi.org/10.3390/ijns8010016

Ejemplares similares

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

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

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

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

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

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges
por: Baker, Craig V., et al.
Publicado: (2022)

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

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

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

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 in Italy: Diagnostic algorithm and disease monitoring
por: Bonaventura, Eleonora, et al.
Publicado: (2023)

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

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

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)

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

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)

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

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

X-linked adrenoleukodystrophy presenting as attention deficit hyperactivity disorder
por: Ilango, T. Siva, 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)

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

Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
por: Natarajan, Archana, et al.
Publicado: (2021)

X-linked adrenoleukodystrophy presenting as progressive ataxia and pure cerebellar involvement
por: de Moraes, Marianna Pinheiro Moraes, et al.
Publicado: (2021)

SAT281 Screening For Adrenocortical Insufficiency In Patients With X-linked Adrenoleukodystrophy
por: Berquist, John, et al.
Publicado: (2023)

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)

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

The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California
por: Tang, Hao, et al.
Publicado: (2020)

The Status of Newborn Hearing Screening in Japan: Past, Present, and the Future
por: Hollowell, Jason L, et al.
Publicado: (2022)

Adolescent-onset X-linked Adrenoleukodystrophy Presenting as Treatment-resistant Bipolar Disorder
por: Ray, Anirban, et al.
Publicado: (2017)

Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening
por: Yska, Hemmo A. F., et al.
Publicado: (2023)

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
por: Engelen, Marc, et al.
Publicado: (2012)

Vaccine equity: Past, present, and future
por: van der Graaf, Rieke, et al.
Publicado: (2022)

Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
por: Wu, Chen, et al.
Publicado: (2017)

Newborn Screening: From the Past to the Future
por: Zeybek, Ayşe Çiğdem Aktuğlu
Publicado: (2022)

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)

Cannot write session to /tmp/vufind_sessions/sess_75c2jhn80u5ro6oaf4nofeq6fm