-
Aldehyde dehydrogenase 7 family,
member A1, also
known as ALDH7A1 or
antiquitin, is an
enzyme that in
humans is
encoded by the ALDH7A1 gene. The protein...
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prevalence of 1 in 20,000 births. The ALDH7A1 gene
encodes for the
enzyme antiquitin or α-aminoadipic
semialdehyde dehydrogenase,
which is
involved with the...
- Pająk R,
Paprocka J (December 2021). "Pyridoxine-Dependent
Epilepsy and
Antiquitin Deficiency Resulting in Neonatal-Onset
Refractory Seizures".
Brain Sciences...
- Pająk R,
Paprocka J (December 2021). "Pyridoxine-Dependent
Epilepsy and
Antiquitin Deficiency Resulting in Neonatal-Onset
Refractory Seizures".
Brain Sciences...
-
Tacke U,
Uhlenberg B,
Weschke B,
Clayton PT (March 2006). "Mutations in
antiquitin in
individuals with pyridoxine-dependent seizures".
Nature Medicine. 12...
-
Tacke U,
Uhlenberg B,
Weschke B,
Clayton PT (March 2006). "Mutations in
antiquitin in
individuals with pyridoxine-dependent seizures".
Nature Medicine. 12...
