Concepedia

Rudy Fabunan

RF

1

Publications

36

Citations

1

H-Index

2020

Active since

Affiliations

Children’s Institute(Current)

Rudy Fabunan is an author at Children’s Institute specializing in medicine, neurodegeneration, and genetics.

Top concepts

GeneticsMedicineBiochemistryNeurogeneticsNatural SciencesMolecular BiologyNeurodegenerationNeurodegenerative Diseases

Publications per year

2020–2020

1

Publications

1

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Shereen G. Ghosh, Sangmoon Lee, Rudy Fabunan et al. · Genetics in Medicine · 2020 · 36 citations

Neurodegenerative Diseases, Aldehyde Dehydrogenase, Mendelian Disorder +13

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