Cargando…

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the National Taiwan University NBS Center has changed the method for Pompe disease NBS from fluorometric assay to tandem mass...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chiang, Shu-Chuan, Chien, Yin-Hsiu, Chang, Kai-Ling, Lee, Ni-Chung, Hwu, Wuh-Liang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422994/ https://www.ncbi.nlm.nih.gov/pubmed/33073026 http://dx.doi.org/10.3390/ijns6020030

Ejemplares similares

Development of Newborn Screening for Pompe Disease
por: Hwu, Wuh-Liang, et al.
Publicado: (2020)

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease()
por: Chien, Yin-Hsiu, et al.
Publicado: (2017)

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
por: Zeng, Yin-Ting, et al.
Publicado: (2021)

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study
por: Peng, Steven Shinn-Forng, et al.
Publicado: (2016)

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease
por: Chiang, Shu-Chuan, et al.
Publicado: (2018)

Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
por: Chien, Yin-Hsiu, et al.
Publicado: (2022)

A review of treatment of Pompe disease in infants
por: Chien, Yin-Hsiu, et al.
Publicado: (2007)

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
por: Chien, Yin-Hsiu, 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)

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
por: Wang, Li-Yun, et al.
Publicado: (2013)

Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease
por: Hwang, Hsuen-En, et al.
Publicado: (2017)

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
por: Feeney, Erin J, et al.
Publicado: (2014)

Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
por: Chien, Yin-Hsiu, et al.
Publicado: (2013)

Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy
por: Chen, Chih-Ling, et al.
Publicado: (2021)

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan
por: Weng, Hui-Ling, et al.
Publicado: (2020)

Curated incidence of lysosomal storage diseases from the Taiwan Biobank
por: Tsai, Meng-Ju Melody, et al.
Publicado: (2023)

Aromatic l‐amino acid decarboxylase deficiency in Taiwan
por: Hwu, Wuh‐Liang, et al.
Publicado: (2023)

Newborn Screening for Pompe Disease
por: Sawada, Takaaki, et al.
Publicado: (2020)

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
por: Hsueh, Chien-Yu, et al.
Publicado: (2021)

Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice
por: Lee, Ni-Chung, et al.
Publicado: (2020)

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
por: Chien, Yin-Hsiu, et al.
Publicado: (2020)

The Outcome of Infantile Onset Pompe Disease in South of Iran
por: Moravej, Hossein, et al.
Publicado: (2016)

The infantile-onset form of Pompe disease: an autopsy diagnosis
por: dos Santos, Otávio César Cruz, et al.
Publicado: (2015)

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy
por: Quan, Jun-Jun, et al.
Publicado: (2017)

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus
por: Fatehi, Farzad, et al.
Publicado: (2021)

A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome
por: Lee, Ni-Chung, et al.
Publicado: (2017)

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
por: Hsu, Rai-Hseng, et al.
Publicado: (2023)

Changing clinical manifestations of Gaucher disease in Taiwan
por: Lu, Wen-Li, et al.
Publicado: (2023)

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
por: Jackson, David G., et al.
Publicado: (2023)

Infantile Pompe disease with intrauterine onset: a case report and literature review
por: Xi, Hongmin, et al.
Publicado: (2022)

Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians
por: Chen, Wei-Hsin, et al.
Publicado: (2013)

S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease
por: Parenti, Giancarlo, et al.
Publicado: (2011)

Infantile onset Pompe disease presenting with non-immune hydrops fetalis
por: Lee, Kristen, et al.
Publicado: (2019)

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease
por: Jones, Harrison N., et al.
Publicado: (2020)

Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes
por: Chen, Yi-Hua, et al.
Publicado: (2023)

Newborn Screening for Pompe Disease: Pennsylvania Experience
por: Ficicioglu, Can, et al.
Publicado: (2020)

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
por: Al-Hassnan, Zuhair N., et al.
Publicado: (2018)

Establishing Pompe Disease Newborn Screening: The Role of Industry
por: Keutzer, Joan M.
Publicado: (2020)

Current status of newborn screening for Pompe disease in Japan
por: Sawada, Takaaki, et al.
Publicado: (2021)

Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report
por: Zhang, Ying, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7ksj1i38284ku9oq92v5bbvreu