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C

Chester B. Whitley

University of Minnesota

H指数:50

被引数:7,763

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Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders

糖蛋白贮积症：罕见溶酶体疾病的临床特征、治疗格局和监管途径

Molecular Genetics and Metabolism

IF3.5

2026-04-160

PRE

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis

超越检测：比较基于状态的先天性糖胺聚糖I诊断方法

International Journal of Neonatal Screening

IF4

2026-03-040

OA

Long-term outcome of Hurler syndrome following bone marrow transplantation

Molecular Genetics and Metabolism

IF3.5

2026-02-030

PRE

Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC)

法布里病以及I198T和A143T不断演变的故事：具有不同临床后果的变异（VVCC）

Molecular Genetics and Metabolism

IF3.5

2025-08-130

PRE

Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program

Pegvaliase疗法治疗苯丙酮尿症：药师主导的Pegvaliase项目中的真实世界安全性、有效性与用药可及性结局

GENETICS IN MEDICINE

IF6.2

2025-06-010

PRE

Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE , a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-05-010

OA

Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult

KIDNEY INTERNATIONAL REPORTS

IF5.7

2025-03-010

OAAI

Changes in CSF GAG after intravenous enzyme replacement therapy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Improving blood-brain barrier penetration in Hurler syndrome using an IDUA-ApoE fusion enzyme delivered via the PS Gene Editing System

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Clinical assessment of disease severity in patients with Fabry disease treated with pegunigalsidase alfa: An integrated analysis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Long-term safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from the ASPIRE study and open-label extension

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Early clinical experience in initiating pegunigalsidase alfa in Fabry disease: Trends in safety, efficacy, and tolerability

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Penetrating the blood-brain barrier: Utilizing the PS gene editing system to encode a novel fusion β-galactosidase for the treatment of GM1 gangliosidosis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Phenotype differentiation and white matter preservation by early hematopoietic cell transplantation - Free-water diffusion tensor MRI study of the brain in mucopolysaccharidosis type I patients

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Quality of life of migalastat-treated adolescents with Fabry disease: Results from the ASPIRE study and open-label extension

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

PS Gene-editing system corrects the CNS with blood-brain barrier penetrant ApoE-enzymes

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

A phase 1/2 study of LY3884961 (PR001) an AAV9-based gene therapy for Gaucher disease type 2-A clinical update from the PROVIDE trial

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series

COMMUNICATIONS MEDICINE

IF6.3

2025-01-090

OA

Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-012

PRE