Citations for
1HPDL, HPDLD
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL. 2021 PMID:
Morgan NV, Yngvadottir B, O'Driscoll M, Clark GR, Walsh D, Martin E, Tee L, Reid E, Titheradge HL, Maher ER.
Brain Commun. Jan 28;3(1):fcab002. doi: 10.1093/braincomms/fcab002. 2021
2HPDL, HPDLD
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet. 2021 PMID:
Numata-Uematsu Y, Uematsu M, Yamamoto T, Saitsu H, Katata Y, Oikawa Y, Saijyo N, Inui T, Murayama K, Ohtake A, Osaka H, Takanashi JI, Kure S, Inoue K
Mol Genet Metab Rep. Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. 2021
3HPDL, HPDLD
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB
Am J Hum Genet. Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23 2020