Suchergebnisse - "Young, Sarah"

PubPharm (25)

1

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2020

von Beasley, J. | McCaw, P. | Zhang, H. | +2

2

Response to Heiner-Fokkema et al

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2020

von Young, S. | Khan, A. | Austin, S. | +1

CommentOn: Genet Med. 2020 Nov;22(11):1915-1916. - PMID 32655139

3

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

enthalten in: Molecular genetics and metabolism | 2020

von Stiles, A. | Zhang, H. | Dai, J. | +7

4

Urine gastrin-releasing peptide in the first week correlates with bronchopulmonary dysplasia and post-prematurity respiratory disease

enthalten in: Pediatric pulmonology | 2020

von Voynow, J. | Fisher, K. | Sunday, M. | +13

5

Liver fibrosis during clinical ascertainment of glycogen storage disease type III : a need for improved and systematic monitoring

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Halaby, C. | Young, S. | Austin, S. | +9

6

Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malaria

enthalten in: FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2019

von Yeo, T. | Bush, P. | Chen, Y. | +7

7

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

enthalten in: Journal of inherited metabolic disease | 2019

von Van Hove, J. | Freehauf, C. | Ficicioglu, C. | +19

8

Natural Progression of Canine Glycogen Storage Disease Type IIIa

enthalten in: Comparative medicine | 2016

von Brooks, E. | Yi, H. | Austin, S. | +5

9

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2013

von Manoli, I. | Sysol, J. | Li, L. | +20

10

Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry

enthalten in: Current protocols in human genetics | 2013

von Zhang, H. | Young, S. | Millington, D.