A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family Article Swipe
Muhammad Muzammal
,
Muhammad Ali
,
Beatrice A. Brugger
,
Jasmin Blatterer
,
Safeer Ahmad
,
Sundas Taj
,
Syed Khizar Shah
,
Saadullah Khan
,
Christian Enzinger
,
Erwin Petek
,
Klaus Wagner
,
Muzammil Ahmad Khan
,
Christian Windpassinger
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1007/s11011-021-00832-2
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1007/s11011-021-00832-2
Related Topics
Concepts
Sanger sequencing
Disease gene identification
Exome sequencing
Macrocephaly
Genetics
Ataxia
Global developmental delay
Biology
Medicine
Mutation
Phenotype
Neuroscience
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s11011-021-00832-2
- https://link.springer.com/content/pdf/10.1007/s11011-021-00832-2.pdf
- OA Status
- hybrid
- Cited By
- 13
- References
- 43
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3209401136
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3209401136Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1007/s11011-021-00832-2Digital Object Identifier
- Title
-
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani familyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-11-01Full publication date if available
- Authors
-
Muhammad Muzammal, Muhammad Ali, Beatrice A. Brugger, Jasmin Blatterer, Safeer Ahmad, Sundas Taj, Syed Khizar Shah, Saadullah Khan, Christian Enzinger, Erwin Petek, Klaus Wagner, Muzammil Ahmad Khan, Christian WindpassingerList of authors in order
- Landing page
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https://doi.org/10.1007/s11011-021-00832-2Publisher landing page
- PDF URL
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https://link.springer.com/content/pdf/10.1007/s11011-021-00832-2.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
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https://link.springer.com/content/pdf/10.1007/s11011-021-00832-2.pdfDirect OA link when available
- Concepts
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Sanger sequencing, Disease gene identification, Exome sequencing, Macrocephaly, Genetics, Ataxia, Global developmental delay, Biology, Medicine, Mutation, Phenotype, Neuroscience, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
13Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 3, 2024: 3, 2023: 2, 2022: 5Per-year citation counts (last 5 years)
- References (count)
-
43Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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