Suchergebnisse - "Turgeon, Coleman T"

PubPharm (15)

1

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

enthalten in: American journal of human genetics | 2018

von Ferreira, C. | Xia, Z. | Clément, A. | +53

CommentIn: Am J Med Genet A. 2019 Feb;179(2):159-160. - PMID 30548960

2

Precision newborn screening for lysosomal disorders

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2018

von Minter Baerg, M. | Stoway, S. | Hart, J. | +13

3

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

enthalten in: Clinical chemistry | 2016

von Tortorelli, S. | Turgeon, C. | Gavrilov, D. | +4

4

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

enthalten in: Clinical chemistry | 2016

von Tortorelli, S. | Turgeon, C. | Gavrilov, D. | +4

5

Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease

enthalten in: Journal of inherited metabolic disease | 2015

von Turgeon, C. | Orsini, J. | Sanders, K. | +10

6

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

enthalten in: Journal of inherited metabolic disease | 2015

von Turgeon, C. | Orsini, J. | Sanders, K. | +10

7

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

enthalten in: Journal of inherited metabolic disease | 2015

von Turgeon, C. | Orsini, J. | Sanders, K. | +10

8

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

enthalten in: Journal of inherited metabolic disease | 2015

von Turgeon, C. | Orsini, J. | Sanders, K. | +10

9

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

enthalten in: Molecular genetics and metabolism | 2015

von Turgeon, C. | Moser, A. | Mørkrid, L. | +7

10

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

enthalten in: Molecular genetics and metabolism | 2015

von Turgeon, C. | Moser, A. | Mørkrid, L. | +7