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J

Jennifer T. Saville

sapathology

H指数:16

被引数:714

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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

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

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

Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation

NPJ PARKINSONS DISEASE

IF8.2

2022-08-0612

OAAI

The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases

BRAIN COMMUNICATIONS

IF4.5

2021-12-2322

OAAI

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory

IF3.7

2021-07-086

OAAI

Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-0112

PREAI

Evaluation of biomarkers for Sanfilippo syndrome

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-09-0115

PREAI

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

GENETICS IN MEDICINE

IF6.2

2019-03-0139

OAAI

Mass spectrometry-directed structure elucidation and total synthesis of ultra-long chain (O-acyl)-ω-hydroxy fatty acids

JOURNAL OF LIPID RESEARCH

IF4.1

2018-08-0148

OAAI

Maternal overnutrition by hypercaloric diets programs hypothalamic mitochondrial fusion and metabolic dysfunction in rat male offspring

NUTRITION & METABOLISM

IF4.1

2018-06-0544

OAAI

Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse

糖胺聚糖片段作为I型粘多糖贮积症小鼠疾病负担的量度

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-02-0116

PREAI

Reduced cerebral vascularization in experimental neuronopathic Gaucher disease

JOURNAL OF PATHOLOGY

IF5.2

2017-12-1419

OA

Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy

ANALYTICA CHIMICA ACTA

IF6

2017-02-0115

PREAI

Selective normalisation of regional brain bis(monoacylglycero)phosphate in the mucopolysaccharidosis 1 (Hurler) mouse

粘多糖贮积症1 (Hurler) 小鼠局部脑双 (单酰基甘油) 磷酸的选择性正常化

EXPERIMENTAL NEUROLOGY

IF4.2

2016-03-019

PREAI

Ceramide accumulation in L6 skeletal muscle cells due to increased activity of ceramide synthase isoforms has opposing effects on insulin action to those caused by palmitate treatment

IF10.2

2013-08-2924

PREAI

Identification of phospholipids in human meibum by nano-electrospray ionisation tandem mass spectrometry

EXPERIMENTAL EYE RESEARCH

IF2.7

2011-03-0158

OAAI