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M

Maria Fuller

University of Adelaide

H指数:40

被引数:4,610

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Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges

脑脊液肝素硫酸盐作为神经元病变型黏多糖贮积症的生物标志物：原理与监管挑战

Molecular Genetics and Metabolism

IF3.5

2026-03-310

OAAI

Sphingolipids in Gaucher disease: a systematic review

尼曼-匹克病中的鞘脂：系统综述

Orphanet Journal of Rare Diseases

IF3.5

2025-11-070

OAAI

Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease

鞘脂从头合成在戈谢病巨噬细胞模型中上调

Molecular Genetics and Metabolism

IF3.5

2025-05-180

OA

Treatment with UX111 gene therapy rapidly reduced heparansulfate (HS) exposure in cerebrospinalfluid (CSF) and improvedlong-term cognitive function in children withmucopolysaccharidosis type IIIA (MPS IIIA)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology

KIDNEY INTERNATIONAL REPORTS

IF5.7

2025-02-010

OAAI

Utility of signature specific biomarkers for the mucopolysaccharidoses: 8 years experience in the diagnostic laboratory

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice

心脏功能障碍和酸性鞘氨醇酶缺陷小鼠的基因表达改变

AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

IF0

2025-01-011

PRE

Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-08-011

OAAI

Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

A multiplex lipid platform improves the laboratory diagnosis of the sphingolipidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-014

PRE

Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-015

OAAI

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-09-017

OAAI

GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-09-016

OAAI

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

酸性神经酰胺酶缺乏症小鼠模型中的脊髓性肌萎缩样表型

COMMUNICATIONS BIOLOGY

IF5.1

2023-05-258

OAAI

Signature biomarkers for diagnosis, screening, and biochemical monitoring of the mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-011

PRE

Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-013

PRE

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

以患者为中心的1型戈谢病实验室诊断指南

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-12-2128

OAAI

Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis

肺炎球菌败血症患者的游离尿唾液酸水平可能升高

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2022-08-251

PRE

Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models

ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

IF16.9

2022-08-127

PRE