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Molecular Genetics and Metabolism Reports
|
October 6, 2025
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening
Éliane Beauregard-Lacroix, Madeline Steffensen, Caitlin Menello, et al.
Genetics
|
June 23, 2017
The Combined Action of Duplicated Boron Transporters Is Required for Maize Growth in Boron-Deficient Conditions
Mithu Chatterjee, Qiujie Liu, Caitlin Menello, et al.
The Journal of Applied Laboratory Medicine
|
February 27, 2026
Investigating Elevated Glutaric Acid in Early Infancy
Shubhnita Singh, Caitlin Menello, Xinying Hong, et al.
Orphanet Journal of Rare Diseases
|
December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Can Ficicioglu, Dena R Matalon, Nicole Luongo, et al.
International Journal of Neonatal Screening
|
September 22, 2025
Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts
Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, et al.
International Journal of Neonatal Screening
|
March 26, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen
Hayley A Ron, Owen Kane, Rose Guo, et al.
International Journal of Neonatal Screening
|
November 18, 2020
Newborn Screening for Pompe Disease: Pennsylvania Experience
Can Ficicioglu, Rebecca C Ahrens-Nicklas, Joshua Barch, et al.
International Journal of Neonatal Screening
|
April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
Molecular Genetics and Metabolism Reports
|
October 6, 2025
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening
Éliane Beauregard-Lacroix, Madeline Steffensen, Caitlin Menello, et al.
Genetics
|
June 23, 2017
The Combined Action of Duplicated Boron Transporters Is Required for Maize Growth in Boron-Deficient Conditions
Mithu Chatterjee, Qiujie Liu, Caitlin Menello, et al.
The Journal of Applied Laboratory Medicine
|
February 27, 2026
Investigating Elevated Glutaric Acid in Early Infancy
Shubhnita Singh, Caitlin Menello, Xinying Hong, et al.
Orphanet Journal of Rare Diseases
|
December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Can Ficicioglu, Dena R Matalon, Nicole Luongo, et al.
International Journal of Neonatal Screening
|
September 22, 2025
Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts
Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, et al.
International Journal of Neonatal Screening
|
March 26, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen
Hayley A Ron, Owen Kane, Rose Guo, et al.
International Journal of Neonatal Screening
|
November 18, 2020
Newborn Screening for Pompe Disease: Pennsylvania Experience
Can Ficicioglu, Rebecca C Ahrens-Nicklas, Joshua Barch, et al.
International Journal of Neonatal Screening
|
April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Page
of 1