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European Journal of Pediatrics
|
February 16, 2005
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result
Trevor L Hoffman, Erin M Simon, Can Ficicioglu
International Journal of Neonatal Screening
|
July 21, 2021
Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening
Jessica I Gold, Ian M Campbell, Can Ficicioglu
International Journal of Neonatal Screening
|
July 28, 2017
Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
Leah Dowsett, Lauren Lulis, Can Ficicioglu, et al.
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.
JIMD Reports
|
February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
Curtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2016
Response to van Rijt et al
Rebecca C Ahrens-Nicklas, Louise C Pyle, Can Ficicioglu
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2016
Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency
Rebecca C Ahrens-Nicklas, Louise C Pyle, Can Ficicioglu
Pediatric Neurology
|
May 20, 2008
Brain magnetic resonance imaging findings in 49,XXXXY syndrome
Trevor L Hoffman, Arastoo Vossough, Can Ficicioglu, et al.
Pediatric Emergency Care
|
June 3, 2015
An 8-year-old girl with abdominal pain and mental status changes
Rebecca C Ahrens-Nicklas, Andrew C Edmondson, Can Ficicioglu
JIMD Reports
|
March 17, 2015
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level
Rebecca C Ahrens-Nicklas, Esra Serdaroglu, Colleen Muraresku, et al.
Page
of 11
Search research articles
Search
Showing results (21-30 of 110) with videos related to
Sort By:
Page
of 11
European Journal of Pediatrics
|
February 16, 2005
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result
Trevor L Hoffman, Erin M Simon, Can Ficicioglu
International Journal of Neonatal Screening
|
July 21, 2021
Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening
Jessica I Gold, Ian M Campbell, Can Ficicioglu
International Journal of Neonatal Screening
|
July 28, 2017
Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
Leah Dowsett, Lauren Lulis, Can Ficicioglu, et al.
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.
JIMD Reports
|
February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
Curtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2016
Response to van Rijt et al
Rebecca C Ahrens-Nicklas, Louise C Pyle, Can Ficicioglu
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2016
Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency
Rebecca C Ahrens-Nicklas, Louise C Pyle, Can Ficicioglu
Pediatric Neurology
|
May 20, 2008
Brain magnetic resonance imaging findings in 49,XXXXY syndrome
Trevor L Hoffman, Arastoo Vossough, Can Ficicioglu, et al.
Pediatric Emergency Care
|
June 3, 2015
An 8-year-old girl with abdominal pain and mental status changes
Rebecca C Ahrens-Nicklas, Andrew C Edmondson, Can Ficicioglu
JIMD Reports
|
March 17, 2015
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level
Rebecca C Ahrens-Nicklas, Esra Serdaroglu, Colleen Muraresku, et al.
Page
of 11