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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Amna AL-Futaisi
,
Khalid Al-Thihli
Child Health
Genetics
Research output
:
Contribution to journal
›
Article
›
peer-review
37
Citations (Scopus)
Overview
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Dive into the research topics of 'PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.'. Together they form a unique fingerprint.
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Medicine & Life Sciences
Molecular Biology
100%
Fertilization
53%
Larva
52%
Zebrafish
50%
Epilepsy
41%
Mitochondrial encephalopathy
40%
Pyridoxine
33%
Vitamin B 6
31%
Phenotype
29%
Clustered Regularly Interspaced Short Palindromic Repeats
29%
Leucovorin
29%
Protein Stability
29%
Status Epilepticus
28%
Movement Disorders
27%
HEK293 Cells
26%
Drug Discovery
25%
gamma-Aminobutyric Acid
23%
Catecholamines
22%
Mass Spectrometry
22%
Longevity
22%
Virulence
21%
Mitochondria
20%
Yeasts
19%
Seizures
19%
Fibroblasts
18%
Homeostasis
18%
Amino Acids
17%
Animals
12%
Proteins
9%