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A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans
by
Spiegel, Ronen
,
Bach, Gideon
,
Sury, Vivi
,
Mengistu, Getu
,
Meidan, Bela
,
Shalev, Stavit
,
Yona Shneor
,
Mandel, Hanna
,
Zeigler, Marsha
Published in
Molecular genetics and metabolism
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Genetic screening for Krabbe disease: Learning from the past and looking to the future
by
Macarov, Michal
,
Zlotogora, Joel
,
Meiner, Vardiella
,
Khatib, Zinab
,
Sury, Vivi
,
Mengistu, Getu
,
Bargal, Ruth
,
Shmueli, Esther
,
Meidan, Bela
,
Zeigler, Marsha
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics. Part A
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Molecular Genetics And Metabolism
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Genetics & Heredity
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Humans
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Krabbe Disease
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Leukodystrophy, Globoid Cell - Genetics
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Life Sciences & Biomedicine
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Science & Technology
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Amniocentesis
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Base Sequence
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Biological And Medical Sciences
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Carrier Screening
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Child, Preschool
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Dna Primers
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Endocrinology & Metabolism
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Errors Of Metabolism
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Family
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Female
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Galactocerebrosidase
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Galactosylceramidase - Metabolism
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Galactosylceramide
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General Aspects. Genetic Counseling
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