Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Benner A et al.
American Journal of Medical Genetics. Part A, 2021
Autism: Screening of inborn errors of metabolism and unexpected results.
İnci A et al.
Autism Research : Official Journal of the International Society for Autism Research, 2021
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
Burkhalter MD et al.
The Journal of Clinical Investigation, 2019
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