Etiology
Lecca M,
Mauri L,
Gana S,
Del Longo A,
Morelli F,
Nicotra R,
Plumari M,
Galli J,
Sirchia F,
Valente EM,
Cavallari U,
Mazza M,
Signorini S,
Errichiello E
Clin Genet
2024 Oct;106(4):403-412.
Epub 2024 Jun 5
doi: 10.1111/cge.14568.
PMID: 38840272
Köroğlu M,
Karakaplan M,
Gündüz E,
Kesriklioğlu B,
Ergen E,
Aslantürk O,
Özdemir ZM
Orphanet J Rare Dis
2024 Feb 9;19(1):53.
doi: 10.1186/s13023-024-03082-4.
PMID: 38336741Free PMC Article
Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR
Expert Rev Neurother
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
PMID: 31829048
Guleray N,
Kosukcu C,
Taskiran ZE,
Simsek Kiper PO,
Utine GE,
Gucer S,
Tokatli A,
Boduroglu K,
Alikasifoglu M
Fetal Pediatr Pathol
2020 Apr;39(2):163-171.
Epub 2019 Jul 15
doi: 10.1080/15513815.2019.1639089.
PMID: 31303091
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Diagnosis
Ferreira CR,
Niiler T,
Duker AL,
Jackson AP,
Bober MB
Am J Med Genet A
2020 Sep;182(9):2110-2116.
Epub 2020 Jul 11
doi: 10.1002/ajmg.a.61754.
PMID: 32652690Free PMC Article
Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR
Expert Rev Neurother
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
PMID: 31829048
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Shanske AL,
Bernstein L,
Herzog R
Pediatrics
2007 Aug;120(2):e436-41.
doi: 10.1542/peds.2006-2997.
PMID: 17671048
Bosch AM
J Inherit Metab Dis
2006 Aug;29(4):516-25.
Epub 2006 Jul 11
doi: 10.1007/s10545-006-0382-0.
PMID: 16838075
Therapy
Köroğlu M,
Karakaplan M,
Gündüz E,
Kesriklioğlu B,
Ergen E,
Aslantürk O,
Özdemir ZM
Orphanet J Rare Dis
2024 Feb 9;19(1):53.
doi: 10.1186/s13023-024-03082-4.
PMID: 38336741Free PMC Article
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Mandia D,
Chaussenot A,
Besson G,
Lamari F,
Castelnovo G,
Curot J,
Duval F,
Giral P,
Lecerf JM,
Roland D,
Pierdet H,
Douillard C,
Nadjar Y
J Neurol
2019 Aug;266(8):2043-2050.
Epub 2019 May 21
doi: 10.1007/s00415-019-09377-y.
PMID: 31115677
Abdel-Hamid MS,
Issa MY,
Otaify GA,
Zaki MS
Metab Brain Dis
2017 Apr;32(2):311-315.
Epub 2017 Feb 22
doi: 10.1007/s11011-017-9971-x.
PMID: 28229379
Nie S,
Chen G,
Cao X,
Zhang Y
Orphanet J Rare Dis
2014 Nov 26;9:179.
doi: 10.1186/s13023-014-0179-4.
PMID: 25424010Free PMC Article
Prognosis
Lecca M,
Mauri L,
Gana S,
Del Longo A,
Morelli F,
Nicotra R,
Plumari M,
Galli J,
Sirchia F,
Valente EM,
Cavallari U,
Mazza M,
Signorini S,
Errichiello E
Clin Genet
2024 Oct;106(4):403-412.
Epub 2024 Jun 5
doi: 10.1111/cge.14568.
PMID: 38840272
Koyama S,
Sekijima Y,
Ogura M,
Hori M,
Matsuki K,
Miida T,
Harada-Shiba M
J Atheroscler Thromb
2021 Sep 1;28(9):905-925.
Epub 2021 May 8
doi: 10.5551/jat.RV17055.
PMID: 33967188Free PMC Article
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
P S,
Ebrahimi EA,
Ghazala SA,
D TK,
R S,
Priya Doss C G,
Zayed H
J Cell Biochem
2018 Sep;119(9):7585-7598.
Epub 2018 Jun 12
doi: 10.1002/jcb.27097.
PMID: 29893426
Waisbren SE,
Potter NL,
Gordon CM,
Green RC,
Greenstein P,
Gubbels CS,
Rubio-Gozalbo E,
Schomer D,
Welt C,
Anastasoaie V,
D'Anna K,
Gentile J,
Guo CY,
Hecht L,
Jackson R,
Jansma BM,
Li Y,
Lip V,
Miller DT,
Murray M,
Power L,
Quinn N,
Rohr F,
Shen Y,
Skinder-Meredith A,
Timmers I,
Tunick R,
Wessel A,
Wu BL,
Levy H,
Elsas L,
Berry GT
J Inherit Metab Dis
2012 Mar;35(2):279-86.
Epub 2011 Jul 21
doi: 10.1007/s10545-011-9372-y.
PMID: 21779791Free PMC Article
Clinical prediction guides
Lecca M,
Mauri L,
Gana S,
Del Longo A,
Morelli F,
Nicotra R,
Plumari M,
Galli J,
Sirchia F,
Valente EM,
Cavallari U,
Mazza M,
Signorini S,
Errichiello E
Clin Genet
2024 Oct;106(4):403-412.
Epub 2024 Jun 5
doi: 10.1111/cge.14568.
PMID: 38840272
Christen M,
Oevermann A,
Rupp S,
Vaz FM,
Wever EJM,
Braus BK,
Jagannathan V,
Kehl A,
Hytönen MK,
Lohi H,
Leeb T
Mol Genet Metab
2024 Mar;141(3):108149.
Epub 2024 Jan 21
doi: 10.1016/j.ymgme.2024.108149.
PMID: 38277988
Berry V,
Pontikos N,
Ionides A,
Kalitzeos A,
Quinlan RA,
Michaelides M
Ophthalmic Genet
2022 Apr;43(2):218-223.
Epub 2021 Nov 8
doi: 10.1080/13816810.2021.1998556.
PMID: 34748434
P S,
Ebrahimi EA,
Ghazala SA,
D TK,
R S,
Priya Doss C G,
Zayed H
J Cell Biochem
2018 Sep;119(9):7585-7598.
Epub 2018 Jun 12
doi: 10.1002/jcb.27097.
PMID: 29893426
Waisbren SE,
Potter NL,
Gordon CM,
Green RC,
Greenstein P,
Gubbels CS,
Rubio-Gozalbo E,
Schomer D,
Welt C,
Anastasoaie V,
D'Anna K,
Gentile J,
Guo CY,
Hecht L,
Jackson R,
Jansma BM,
Li Y,
Lip V,
Miller DT,
Murray M,
Power L,
Quinn N,
Rohr F,
Shen Y,
Skinder-Meredith A,
Timmers I,
Tunick R,
Wessel A,
Wu BL,
Levy H,
Elsas L,
Berry GT
J Inherit Metab Dis
2012 Mar;35(2):279-86.
Epub 2011 Jul 21
doi: 10.1007/s10545-011-9372-y.
PMID: 21779791Free PMC Article