Suchergebnisse - "Turgeon, Coleman T"

PubPharm (8)

1

Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation

enthalten in: Hepatology (Baltimore, Md.) | 2021

von Mousa, O. | Juran, B. | McCauley, B. | +16

2

Immune dysfunction in MGAT2-CDG : A clinical report and review of the literature

enthalten in: American journal of medical genetics. Part A | 2021

von Poskanzer, S. | Schultz, M. | Turgeon, C. | +14

3

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

4

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

5

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

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

Enhanced interpretation of newborn screening results without analyte cutoff values

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2012

von Marquardt, G. | Currier, R. | McHugh, D. | +98

8

Newborn screening for X-linked adrenoleukodystrophy (X-ALD) : validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method

enthalten in: Molecular genetics and metabolism | 2009

von Hubbard, W. | Moser, A. | Liu, A. | +9

1
[1]