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Nestle Nutrition Workshop Series. Paediatric Programme
|
July 16, 2008
Newborn screening of metabolic disorders: recent progress and future developments
Piero Rinaldo, James S Lim, Silvia Tortorelli, et al.
Seminars in Perinatology
|
April 21, 2015
Newborn screening for lysosomal storage disorders
Dietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
Clinical Chemistry
|
October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy
Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Molecular Genetics and Metabolism
|
May 1, 2013
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome
Patricia Hall, Virginia Michels, Dimitar Gavrilov, et al.
Clinical Chemistry
|
February 19, 2008
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
Coleman Turgeon, Mark J Magera, Pierre Allard, et al.
Molecular Genetics and Metabolism
|
February 9, 2010
Homogentisic acid interference in routine urine creatinine determination
Perry R Loken, Mark J Magera, Wendy Introne, et al.
JIMD Reports
|
October 15, 2017
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
Erin Conboy, Filippo Vairo, Matthew Schultz, et al.
Scientific Reports
|
May 30, 2026
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration
Rachel Wurth, Coleman Turgeon, Jean Lacey, et al.
The Journal of Molecular Diagnostics : JMD
|
August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening
Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Molecular Genetics and Metabolism
|
May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
Emily H Smith, Cheryl Thomas, David McHugh, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 28) with videos related to
Sort By:
Page
of 3
Nestle Nutrition Workshop Series. Paediatric Programme
|
July 16, 2008
Newborn screening of metabolic disorders: recent progress and future developments
Piero Rinaldo, James S Lim, Silvia Tortorelli, et al.
Seminars in Perinatology
|
April 21, 2015
Newborn screening for lysosomal storage disorders
Dietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
Clinical Chemistry
|
October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy
Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Molecular Genetics and Metabolism
|
May 1, 2013
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome
Patricia Hall, Virginia Michels, Dimitar Gavrilov, et al.
Clinical Chemistry
|
February 19, 2008
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
Coleman Turgeon, Mark J Magera, Pierre Allard, et al.
Molecular Genetics and Metabolism
|
February 9, 2010
Homogentisic acid interference in routine urine creatinine determination
Perry R Loken, Mark J Magera, Wendy Introne, et al.
JIMD Reports
|
October 15, 2017
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
Erin Conboy, Filippo Vairo, Matthew Schultz, et al.
Scientific Reports
|
May 30, 2026
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration
Rachel Wurth, Coleman Turgeon, Jean Lacey, et al.
The Journal of Molecular Diagnostics : JMD
|
August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening
Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Molecular Genetics and Metabolism
|
May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
Emily H Smith, Cheryl Thomas, David McHugh, et al.
Page
of 3