Suchergebnisse - "Turgeon, Coleman T"

PubPharm (29)

11

Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases : Psychosine for Diagnosis and Prognosis of Krabbe Disease

enthalten in: International journal of neonatal screening | 2020

von Herbst, Z. | Turgeon, C. | Biski, C. | +7

12

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

enthalten in: International journal of neonatal screening | 2020

von Sanders, K. | Gavrilov, D. | Oglesbee, D. | +15

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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