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American Journal of Medical Genetics. Part A
|
September 27, 2016
Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan
Jin-Shei Lai, Sally E Jensen, Zabin S Patel, et al.
Journal of Clinical Psychology in Medical Settings
|
October 10, 2018
Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood
Sally E Jensen, Zabin S Patel, Robert Listernick, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2024
Aminotransferase trends in propionic acidemia
Maria P Silva, Carolyn R Raski, Joel Charrow, et al.
World Journal for Pediatric & Congenital Heart Surgery
|
April 15, 2015
Masquerading acidosis after cardiopulmonary bypass: a case of propionic acidemia and congenital heart disease
Robert A Palermo, Michael C Monge, Joel Charrow, et al.
Nephron
|
March 30, 2025
Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience
Allison M Paltzer, Allegra M Quadri, Carly Rasmussen, et al.
Blood
|
February 19, 2005
Gaucher disease and cancer incidence: a study from the Gaucher Registry
Barry E Rosenbloom, Neal J Weinreb, Ari Zimran, et al.
Molecular Genetics and Metabolism
|
January 24, 2021
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
Neal J Weinreb, José Simon Camelo, Joel Charrow, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
September 20, 2022
Quantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Hamed Piri-Moghadam, Alan Miller, Debra Pronger, et al.
Journal of Mass Spectrometry and Advances in the Clinical Lab
|
May 23, 2022
A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease
Hamed Piri-Moghadam, Alan Miller, Debra Pronger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 5, 2022
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Timothy M Cox, Joel Charrow, Elena Lukina, et al.
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Search research articles
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Showing results (41-50 of 110) with videos related to
Sort By:
Page
of 11
American Journal of Medical Genetics. Part A
|
September 27, 2016
Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan
Jin-Shei Lai, Sally E Jensen, Zabin S Patel, et al.
Journal of Clinical Psychology in Medical Settings
|
October 10, 2018
Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood
Sally E Jensen, Zabin S Patel, Robert Listernick, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2024
Aminotransferase trends in propionic acidemia
Maria P Silva, Carolyn R Raski, Joel Charrow, et al.
World Journal for Pediatric & Congenital Heart Surgery
|
April 15, 2015
Masquerading acidosis after cardiopulmonary bypass: a case of propionic acidemia and congenital heart disease
Robert A Palermo, Michael C Monge, Joel Charrow, et al.
Nephron
|
March 30, 2025
Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience
Allison M Paltzer, Allegra M Quadri, Carly Rasmussen, et al.
Blood
|
February 19, 2005
Gaucher disease and cancer incidence: a study from the Gaucher Registry
Barry E Rosenbloom, Neal J Weinreb, Ari Zimran, et al.
Molecular Genetics and Metabolism
|
January 24, 2021
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
Neal J Weinreb, José Simon Camelo, Joel Charrow, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
September 20, 2022
Quantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Hamed Piri-Moghadam, Alan Miller, Debra Pronger, et al.
Journal of Mass Spectrometry and Advances in the Clinical Lab
|
May 23, 2022
A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease
Hamed Piri-Moghadam, Alan Miller, Debra Pronger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 5, 2022
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Timothy M Cox, Joel Charrow, Elena Lukina, et al.
Page
of 11