P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program Article Swipe
Nicole L. Miller
,
Heraclio Gutierrez
,
Omid Japalaghi
,
Laura Konczal
,
Deborah Marsden
,
Markey McNutt
,
Ana Morales
,
Marcela Vela‐Amieva
,
Vanessa Rangel Miller
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.gimo.2024.100907
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.gimo.2024.100907
Long-chain fatty acid oxidation disorders (LC-FAOD) are rare, life-threatening but treatable autosomal recessive conditions resulting from impaired utilization of long-chain fatty acids for energy production. Clinical signs include hypoglycemia, cardiomyopathy, cardiac arrhythmias, retinopathy, and rhabdomyolysis. LC-FAOD may be detected through newborn screening (NBS) or plasma/dried blood spot acylcarnitine analysis. Molecular testing can aid diagnosis, but access to follow-up genetic testing has historically been limited.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.gimo.2024.100907
- OA Status
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4392589152Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1016/j.gimo.2024.100907Digital Object Identifier
- Title
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P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored programWork title
- Type
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articleOpenAlex work type
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enPrimary language
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2024Year of publication
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2024-01-01Full publication date if available
- Authors
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Nicole L. Miller, Heraclio Gutierrez, Omid Japalaghi, Laura Konczal, Deborah Marsden, Markey McNutt, Ana Morales, Marcela Vela‐Amieva, Vanessa Rangel MillerList of authors in order
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https://doi.org/10.1016/j.gimo.2024.100907Publisher landing page
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YesWhether a free full text is available
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diamondOpen access status per OpenAlex
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https://doi.org/10.1016/j.gimo.2024.100907Direct OA link when available
- Concepts
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Newborn screening, Family history, Beta oxidation, Genetic testing, Medicine, Gene, Genetics, Fatty acid, Bioinformatics, Biology, Pediatrics, Biochemistry, Internal medicineTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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