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

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...

Full description

Bibliographic Details
Main Authors:	Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu
Format:	Article
Language:	English
Published:	MDPI AG 2020-04-01
Series:	International Journal of Neonatal Screening
Subjects:	infantile-onset Pompe disease GAA sequencing immune modulation therapy enzyme replacement therapy cross-reactive immunologic material
Online Access:	https://www.mdpi.com/2409-515X/6/2/30

Similar Items

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
by: Priya S. Kishnani, et al.
Published: (2023-12-01)

A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation
by: Shiri Curelaru, et al.
Published: (2022-09-01)

Infantile‐onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype
by: Mary Riedy, et al.
Published: (2023-01-01)

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
by: Mei-Yan Chan, et al.
Published: (2023-08-01)

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
by: Rossella Parini, et al.
Published: (2018-02-01)

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
by: Zuhair Al-Hassnan, et al.
Published: (2022-10-01)

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
by: Imke A. M. Ditters, et al.
Published: (2023-09-01)

A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells
by: Takeshi Yoshida, et al.
Published: (2019-11-01)

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
by: Chien-Yu Hsueh, et al.
Published: (2021-08-01)

Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
by: Javier de las Heras, et al.
Published: (2021-11-01)

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
by: Yin-Hsiu Chien, et al.
Published: (2020-06-01)

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus
by: Farzad Fatehi, et al.
Published: (2021-09-01)

Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease
by: Ankit K. Desai, et al.
Published: (2024-01-01)

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement
by: Matteo Paoletti, et al.
Published: (2020-11-01)

Enzyme replacement therapy and antibodies in late-onset Pompe disease
by: I. Schneider, et al.
Published: (2014-01-01)

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
by: Yin-Hsiu Chien, et al.
Published: (2017-06-01)

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease
by: Harrison N. Jones, et al.
Published: (2020-06-01)

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy
by: Hui-An Chen, et al.
Published: (2024-04-01)

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
by: Yin-Hsiu Chien, et al.
Published: (2013-08-01)

A Comprehensive Update on Late-Onset Pompe Disease
by: Beatrice Labella, et al.
Published: (2023-08-01)

Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes
by: Yi-Hua Chen, et al.
Published: (2023-06-01)

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
by: Barry J. Byrne, et al.
Published: (2017-08-01)

Treatment Dilemma in Children with Late-Onset Pompe Disease
by: Martha Caterina Faraguna, et al.
Published: (2023-01-01)

Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation
by: Mandat Maharaj, et al.
Published: (2022-09-01)

Characteristics of Pompe disease in China: a report from the Pompe registry
by: Yuying Zhao, et al.
Published: (2019-04-01)

Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease
by: Stefan Hintze, et al.
Published: (2020-04-01)

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
by: Aniko Gal, et al.
Published: (2021-05-01)

Late-onset Pompe disease - literature review and summary of current knowledge
by: Karolina Jaskuła, et al.
Published: (2023-01-01)

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
by: Deeksha S. Bali, et al.
Published: (2015-12-01)

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study
by: Magdalena Cerón‐Rodríguez, et al.
Published: (2022-07-01)

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations
by: Raymond Y. Wang
Published: (2020-03-01)

IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy
by: Qiushi Liang, et al.
Published: (2022-12-01)

Retrospective analysis of prenatal ultrasound of children with Pompe disease
by: Yan-Lin Li, et al.
Published: (2022-11-01)

Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease
by: Matthias Boentert, et al.
Published: (2024-01-01)

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up
by: Sabrina Ravaglia, et al.
Published: (2022-02-01)

Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease
by: Mengjiao Zhang, et al.
Published: (2024-02-01)

Pompe disease: from pathophysiology to therapy and back again
by: Jeong-A eLim, et al.
Published: (2014-07-01)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
by: Lukana Ngiwsara, et al.
Published: (2019-09-01)

Precocious puberty in patients with Pompe disease
by: Meng-Ju Melody Tsai, et al.
Published: (2023-08-01)

A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
by: Kaylee Crossen, et al.
Published: (2022-07-01)