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Laura E. Case

Duke University

H指数:33

被引数:9,538

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Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review

新生儿筛查识别的迟发型庞贝病的经验教训：一项系统综述

Molecular Genetics and Metabolism

IF3.5

2026-02-080

PRE

Infantile-onset Pompe disease entering adulthood: insights from two decades of enzyme replacement therapy experience.

婴儿期起病的庞贝病进入成年期：二十余年酶替代治疗经验的见解。

Genetics in Medicine

IF6.2

2025-09-230

PRE

Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease

定量肌肉超声作为观察婴儿型糖原贮积病I型疾病进展的窗口

Molecular Genetics and Metabolism

IF3.5

2025-09-180

PRE

IOPD entering adulthood: Lessons from two decades of ERT experience

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Phase I study of liver depot gene therapy in late-onset Pompe disease

MOLECULAR THERAPY

IF12

2023-07-0114

OAAI

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-03-0120

PRE

Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2022-07-1024

OAAI

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

迟发性庞贝病的早期临床表型: 新生儿筛查的经验教训

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-03-0122

PRE

Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-011

PRE

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-11-015

OAAI

Sibling umbilical cord blood infusion is safe in young children with cerebral palsy

STEM CELLS TRANSLATIONAL MEDICINE

IF4.9

2021-06-0413

OAAI

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

GENETICS IN MEDICINE

IF6.2

2020-05-0139

OAAI

Whole-body MRI in late-onset Pompe disease: Clinical utility and correlation with functional measures

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-011

PREAI

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-0114

PREAI

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-010

PREAI

A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-012

PREAI

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-08-015

OAAI

Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-02-0114

PREAI