Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms
Langan, Thomas J., Jalal, Kabir, Barczykowski, Amy L., Carter, Randy L., Stapleton, Molly, Orii, Kenji, Fukao, Toshiyuki, Kobayashi, Hironori, Yamaguchi, Seiji, Tomatsu, Shunji
Published in JIMD reports (01.03.2020)
Published in JIMD reports (01.03.2020)
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Journal Article
Death rates in the U.S. due to Leukodystrophies with pediatric forms
Barczykowski, Amy L., Langan, Thomas J., Vanderver, Adeline, Jalal, Kabir, Carter, Randy L.
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Journal Article
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease
Langan, Thomas J., Orsini, Joseph J., Jalal, Kabir, Barczykowski, Amy L., Escolar, Maria L., Poe, Michele D., Biski, Chad K., Carter, Randy L.
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Journal Article
Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?
Carter, Randy L., Wrabetz, Lawrence, Jalal, Kabir, Orsini, Joseph J., Barczykowski, Amy L., Matern, Dietrich, Langan, Thomas J.
Published in Journal of neuroscience research (01.11.2016)
Published in Journal of neuroscience research (01.11.2016)
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Journal Article
Death rates in the United States due to leukodystrophies in the global leukodystrophy initiative registry and related lysosomal disorders
Barczykowski, Amy L., Langan, Thomas J., Vanderver, Adeline, Jalal, Kabir, Carter, Randy L.
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Laboratory reliability and validity for measuring psychosine concentration and GALC enzyme activity for use in newborn screening for Krabbe disease
Jalal, Kabir K., Langan, Thomas J., Orsini, Joseph, Gelb, Michael, Matern, Dieter, Barczykowski, Amy L., Escolar, Maria, Carter, Randy
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Can psychosine and galactocerebrosidase activity predict early‐infantile K rabbe's disease presymptomatically?
Carter, Randy L., Wrabetz, Lawrence, Jalal, Kabir, Orsini, Joseph J., Barczykowski, Amy L., Matern, Dietrich, Langan, Thomas J.
Published in Journal of neuroscience research (01.11.2016)
Published in Journal of neuroscience research (01.11.2016)
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Journal Article