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Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency.

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Title: Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency.
Authors: Merdler-Rabinowicz, Rona1 (AUTHOR), Jacob, Neil1 (AUTHOR), Breilyn, Margo1 (AUTHOR), Morava, Eva1 (AUTHOR), Ganesh, Jaya1 (AUTHOR)
Source: Molecular Genetics & Metabolism. May2026, Vol. 148 Issue 1, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
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  Availability: 0
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An: 193808366
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency.
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  Data: <searchLink fieldCode="AR" term="%22Merdler-Rabinowicz%2C+Rona%22">Merdler-Rabinowicz, Rona</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jacob%2C+Neil%22">Jacob, Neil</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Breilyn%2C+Margo%22">Breilyn, Margo</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Morava%2C+Eva%22">Morava, Eva</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ganesh%2C+Jaya%22">Ganesh, Jaya</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Metabolism%22">Molecular Genetics & Metabolism</searchLink>. May2026, Vol. 148 Issue 1, pN.PAG-N.PAG. 1p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=193808366
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1016/j.ymgme.2026.110043
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      – Code: eng
        Text: English
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      – TitleFull: Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency.
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          Name:
            NameFull: Merdler-Rabinowicz, Rona
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            NameFull: Jacob, Neil
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            NameFull: Breilyn, Margo
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            NameFull: Morava, Eva
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            NameFull: Ganesh, Jaya
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            – D: 01
              M: 05
              Text: May2026
              Type: published
              Y: 2026
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              Value: 148
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            – TitleFull: Molecular Genetics & Metabolism
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