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JIMD Reports
|
August 13, 2016
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
Rebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, et al.
The Journal of Pediatrics
|
January 9, 2010
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry
Can Ficicioglu, Curtis R Coughlin, Michael J Bennett, et al.
Clinical Chemistry
|
May 22, 2010
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate
Can Ficicioglu, Christie Hussa, Paul R Gallagher, et al.
JIMD Reports
|
April 13, 2016
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
Journal of Child Neurology
|
November 1, 2019
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency
Emily Shelkowitz, Can Ficicioglu, Nicholas Stence, et al.
JIMD Reports
|
April 15, 2017
Erratum
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2017
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
Can Ficicioglu, Roberto Giugliani, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
June 6, 2006
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
Paige Kaplan, Can Ficicioglu, Alice T Mazur, et al.
Molecular Genetics and Metabolism
|
June 13, 2026
Liver MR elastography in Gaucher disease: Longitudinal association with disease severity
Suraj D Serai, Éliane Beauregard-Lacroix, Erica Riedesel, et al.
Molecular Genetics and Metabolism
|
June 15, 2016
Pathogenesis and treatment of spine disease in the mucopolysaccharidoses
Sun H Peck, Margret L Casal, Neil R Malhotra, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 110) with videos related to
Sort By:
Page
of 11
JIMD Reports
|
August 13, 2016
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
Rebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, et al.
The Journal of Pediatrics
|
January 9, 2010
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry
Can Ficicioglu, Curtis R Coughlin, Michael J Bennett, et al.
Clinical Chemistry
|
May 22, 2010
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate
Can Ficicioglu, Christie Hussa, Paul R Gallagher, et al.
JIMD Reports
|
April 13, 2016
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
Journal of Child Neurology
|
November 1, 2019
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency
Emily Shelkowitz, Can Ficicioglu, Nicholas Stence, et al.
JIMD Reports
|
April 15, 2017
Erratum
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2017
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
Can Ficicioglu, Roberto Giugliani, Paul Harmatz, et al.
Molecular Genetics and Metabolism
|
June 6, 2006
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
Paige Kaplan, Can Ficicioglu, Alice T Mazur, et al.
Molecular Genetics and Metabolism
|
June 13, 2026
Liver MR elastography in Gaucher disease: Longitudinal association with disease severity
Suraj D Serai, Éliane Beauregard-Lacroix, Erica Riedesel, et al.
Molecular Genetics and Metabolism
|
June 15, 2016
Pathogenesis and treatment of spine disease in the mucopolysaccharidoses
Sun H Peck, Margret L Casal, Neil R Malhotra, et al.
Page
of 11