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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Yan-Lin Li, Li Zhen, Min Pan, Dong-Zhi Li
Fformat:	Erthygl
Iaith:	English
Cyhoeddwyd:	Elsevier 2022-11-01
Cyfres:	Taiwanese Journal of Obstetrics & Gynecology
Pynciau:	Pompe disease Ultrasound Prenatal diagnosis GAA gene
Mynediad Ar-lein:	http://www.sciencedirect.com/science/article/pii/S1028455922002789

Eitemau Tebyg

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
gan: Najlae Adadi, et al.
Cyhoeddwyd: (2018-10-01)

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

A New Mutation of Pompe Disease in a 2-Month-Old Infant
gan: Maryam Taraz, et al.
Cyhoeddwyd: (2024-03-01)

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

Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
gan: Paula Hernández-Arévalo, et al.
Cyhoeddwyd: (2021-05-01)

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

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
gan: David G. Jackson, et al.
Cyhoeddwyd: (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
gan: Kyung-Sun Park
Cyhoeddwyd: (2021-07-01)

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

Ayudas diagnósticas y diagnóstico diferencial de la enfermedad de Pompe
gan: Alba Lucia Marentes-Cubillos, et al.
Cyhoeddwyd: (2023-09-01)

Late-onset Pompe disease: preliminary results of enzyme replacement therapy
gan: L. P. Smertina, et al.
Cyhoeddwyd: (2019-07-01)

Infantile-onset Pompe disease (the first case diagnosed in Voronezh)
gan: V. P. Fedotov, et al.
Cyhoeddwyd: (2015-02-01)

Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy
gan: S. A. Kurbatov, et al.
Cyhoeddwyd: (2015-09-01)

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
gan: Juan Clinton Llerena Junior, et al.
Cyhoeddwyd: (2015-01-01)

Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease
gan: Valentina Martinez‐Montoya, et al.
Cyhoeddwyd: (2024-07-01)

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

Enfermedad de Pompe: reporte de caso
gan: Sara Arias, et al.
Cyhoeddwyd: (2017-03-01)

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
gan: Yasaman Alizadeh, et al.
Cyhoeddwyd: (2024-03-01)

Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease
gan: Anna Roszmann, et al.
Cyhoeddwyd: (2019-06-01)

Novel Mutation in the Feline <i>GAA</i> Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
gan: Tofazzal Md Rakib, et al.
Cyhoeddwyd: (2023-04-01)

Induced pluripotent stem cell for modeling Pompe disease
gan: Wenjun Huang, et al.
Cyhoeddwyd: (2022-12-01)

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report
gan: Sandra Milena Castellar-Leones, et al.
Cyhoeddwyd: (2024-07-01)

Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model
gan: Marlena Rohm, et al.
Cyhoeddwyd: (2023-06-01)

Efficacy of Quantitative Muscle Ultrasound Using Texture-Feature Parametric Imaging in Detecting Pompe Disease in Children
gan: Hong-Jen Chiou, et al.
Cyhoeddwyd: (2019-07-01)

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

Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
gan: Raymond Saich, et al.
Cyhoeddwyd: (2020-01-01)

Prenatal diagnosis of megaduodenum using ultrasound: a case report
gan: Kaihui Zeng, et al.
Cyhoeddwyd: (2021-05-01)

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease
gan: Giuseppa Piras, et al.
Cyhoeddwyd: (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
gan: Allen K. Murray
Cyhoeddwyd: (2020-11-01)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
gan: Lukana Ngiwsara, et al.
Cyhoeddwyd: (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
gan: Shiri Curelaru, et al.
Cyhoeddwyd: (2022-09-01)

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

Pompe disease in China: clinical and molecular characteristics
gan: Jing Li, et al.
Cyhoeddwyd: (2023-12-01)

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
gan: Priya S. Kishnani, et al.
Cyhoeddwyd: (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
gan: Mei-Yan Chan, et al.
Cyhoeddwyd: (2023-08-01)

Prenatal ultrasound diagnosis and prognosis of fetus with isolated filar cyst: a retrospective analysis
gan: Song Chen, et al.
Cyhoeddwyd: (2024-01-01)

Prenatal diagnosis of oral teratoma by ultrasound
gan: Yan-Lin Li, et al.
Cyhoeddwyd: (2024-01-01)

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
gan: Shu-Chuan Chiang, et al.
Cyhoeddwyd: (2020-04-01)

Prenatal ultrasound diagnosis of fetal small bowel obstruction: A case report
gan: Lin Tan, et al.
Cyhoeddwyd: (2025-03-01)

Survey on the management of Pompe disease in routine clinical practice in Spain
gan: Cristina Domínguez-González, et al.
Cyhoeddwyd: (2022-12-01)