Retrospective analysis of prenatal ultrasound of children with Pompe disease

Retrospective analysis of prenatal ultrasound of children with Pompe disease

Objective: The aim of this retrospective study is to determine the prenatal ultrasound markers of patients diagnosed postnatally with infantile-onset Pompe disease (IOPD). Materials and methods: This is a retrospective study of cases with a postnatal diagnosis of IOPD during a 5-year period. The med...

書誌詳細
主要な著者:	Yan-Lin Li, Li Zhen, Min Pan, Dong-Zhi Li
フォーマット:	論文
言語:	English
出版事項:	Elsevier 2022-11-01
シリーズ:	Taiwanese Journal of Obstetrics & Gynecology
主題:	Pompe disease Ultrasound Prenatal diagnosis GAA gene
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S1028455922002789

類似資料

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
著者:: Najlae Adadi, 等
出版事項: (2018-10-01)

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
著者:: Aniko Gal, 等
出版事項: (2021-05-01)

A New Mutation of Pompe Disease in a 2-Month-Old Infant
著者:: Maryam Taraz, 等
出版事項: (2024-03-01)

IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy
著者:: Qiushi Liang, 等
出版事項: (2022-12-01)

Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
著者:: Paula Hernández-Arévalo, 等
出版事項: (2021-05-01)

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
著者:: Rossella Parini, 等
出版事項: (2018-02-01)

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
著者:: David G. Jackson, 等
出版事項: (2023-09-01)

Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population
著者:: Kyung-Sun Park
出版事項: (2021-07-01)

Characteristics of Pompe disease in China: a report from the Pompe registry
著者:: Yuying Zhao, 等
出版事項: (2019-04-01)

Ayudas diagnósticas y diagnóstico diferencial de la enfermedad de Pompe
著者:: Alba Lucia Marentes-Cubillos, 等
出版事項: (2023-09-01)

Late-onset Pompe disease: preliminary results of enzyme replacement therapy
著者:: L. P. Smertina, 等
出版事項: (2019-07-01)

Infantile-onset Pompe disease (the first case diagnosed in Voronezh)
著者:: V. P. Fedotov, 等
出版事項: (2015-02-01)

Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy
著者:: S. A. Kurbatov, 等
出版事項: (2015-09-01)

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
著者:: Juan Clinton Llerena Junior, 等
出版事項: (2015-01-01)

Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease
著者:: Valentina Martinez‐Montoya, 等
出版事項: (2024-07-01)

Infantile‐onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype
著者:: Mary Riedy, 等
出版事項: (2023-01-01)

Enfermedad de Pompe: reporte de caso
著者:: Sara Arias, 等
出版事項: (2017-03-01)

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
著者:: Yasaman Alizadeh, 等
出版事項: (2024-03-01)

Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease
著者:: Anna Roszmann, 等
出版事項: (2019-06-01)

Novel Mutation in the Feline <i>GAA</i> Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
著者:: Tofazzal Md Rakib, 等
出版事項: (2023-04-01)

Induced pluripotent stem cell for modeling Pompe disease
著者:: Wenjun Huang, 等
出版事項: (2022-12-01)

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report
著者:: Sandra Milena Castellar-Leones, 等
出版事項: (2024-07-01)

Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model
著者:: Marlena Rohm, 等
出版事項: (2023-06-01)

Efficacy of Quantitative Muscle Ultrasound Using Texture-Feature Parametric Imaging in Detecting Pompe Disease in Children
著者:: Hong-Jen Chiou, 等
出版事項: (2019-07-01)

Artificial Intelligence in Prenatal Ultrasound: Clinical Application and Prospect
著者:: Wenjia Guo, MM, Shengli Li, MM, Xing Yu, MD, Huaxuan Wen, BM, Ying Yuan, MM, Xia Yang, MM
出版事項: (2023-06-01)

Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
著者:: Raymond Saich, 等
出版事項: (2020-01-01)

Prenatal diagnosis of megaduodenum using ultrasound: a case report
著者:: Kaihui Zeng, 等
出版事項: (2021-05-01)

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease
著者:: Giuseppa Piras, 等
出版事項: (2020-09-01)

The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo
著者:: Allen K. Murray
出版事項: (2020-11-01)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
著者:: Lukana Ngiwsara, 等
出版事項: (2019-09-01)

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
著者:: Shiri Curelaru, 等
出版事項: (2022-09-01)

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
著者:: Imke A. M. Ditters, 等
出版事項: (2023-09-01)

Pompe disease in China: clinical and molecular characteristics
著者:: Jing Li, 等
出版事項: (2023-12-01)

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
著者:: Priya S. Kishnani, 等
出版事項: (2023-12-01)

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
著者:: Mei-Yan Chan, 等
出版事項: (2023-08-01)

Prenatal ultrasound diagnosis and prognosis of fetus with isolated filar cyst: a retrospective analysis
著者:: Song Chen, 等
出版事項: (2024-01-01)

Prenatal diagnosis of oral teratoma by ultrasound
著者:: Yan-Lin Li, 等
出版事項: (2024-01-01)

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
著者:: Shu-Chuan Chiang, 等
出版事項: (2020-04-01)

Prenatal ultrasound diagnosis of fetal small bowel obstruction: A case report
著者:: Lin Tan, 等
出版事項: (2025-03-01)

Survey on the management of Pompe disease in routine clinical practice in Spain
著者:: Cristina Domínguez-González, 等
出版事項: (2022-12-01)