Etiology
Oliva P,
Schwarz M,
Mechtler TP,
Sansen S,
Keutzer J,
Prusa AR,
Streubel B,
Kasper DC
Mol Genet Metab
2023 May;139(1):107563.
Epub 2023 Mar 30
doi: 10.1016/j.ymgme.2023.107563.
PMID: 37086570
Shaimardanova AA,
Solovyeva VV,
Issa SS,
Rizvanov AA
Int J Mol Sci
2023 Feb 11;24(4)
doi: 10.3390/ijms24043627.
PMID: 36835039Free PMC Article
Schlotawa L,
Adang LA,
Radhakrishnan K,
Ahrens-Nicklas RC
Int J Mol Sci
2020 May 13;21(10)
doi: 10.3390/ijms21103448.
PMID: 32414121Free PMC Article
Buonocore F,
Achermann JC
Clin Endocrinol (Oxf)
2020 Jan;92(1):11-20.
Epub 2019 Oct 30
doi: 10.1111/cen.14109.
PMID: 31610036Free PMC Article
Hagège A,
Réant P,
Habib G,
Damy T,
Barone-Rochette G,
Soulat G,
Donal E,
Germain DP
Arch Cardiovasc Dis
2019 Apr;112(4):278-287.
Epub 2019 Feb 28
doi: 10.1016/j.acvd.2019.01.002.
PMID: 30826269
Diagnosis
Schlotawa L,
Adang LA,
Radhakrishnan K,
Ahrens-Nicklas RC
Int J Mol Sci
2020 May 13;21(10)
doi: 10.3390/ijms21103448.
PMID: 32414121Free PMC Article
Buonocore F,
Achermann JC
Clin Endocrinol (Oxf)
2020 Jan;92(1):11-20.
Epub 2019 Oct 30
doi: 10.1111/cen.14109.
PMID: 31610036Free PMC Article
Yu FPS,
Amintas S,
Levade T,
Medin JA
Orphanet J Rare Dis
2018 Jul 20;13(1):121.
doi: 10.1186/s13023-018-0845-z.
PMID: 30029679Free PMC Article
Tran C,
Barbey F,
Lazor R,
Bonafé L
Respiration
2017;94(1):2-13.
Epub 2017 May 16
doi: 10.1159/000475762.
PMID: 28505614
Di Lazzaro V,
Marano M,
Florio L,
De Santis S
Int J Neurosci
2016 Nov;126(11):963-71.
Epub 2016 Mar 29
doi: 10.3109/00207454.2016.1161623.
PMID: 26998855
Therapy
Zhao P,
Liu ID,
Hodgin JB,
Benke PI,
Selva J,
Torta F,
Wenk MR,
Endrizzi JA,
West O,
Ou W,
Tang E,
Goh DL,
Tay SK,
Yap HK,
Loh A,
Weaver N,
Sullivan B,
Larson A,
Cooper MA,
Alhasan K,
Alangari AA,
Salim S,
Gumus E,
Chen K,
Zenker M,
Hildebrandt F,
Saba JD
J Inherit Metab Dis
2020 Sep;43(5):1131-1142.
Epub 2020 May 4
doi: 10.1002/jimd.12238.
PMID: 32233035Free PMC Article
Katsuta H,
Tsuboi K,
Yamamoto H,
Goto H
Circ J
2018 Nov 24;82(12):3058-3063.
Epub 2018 Oct 3
doi: 10.1253/circj.CJ-18-0378.
PMID: 30282881
Kleinotienė G,
Tylki-Szymanska A,
Czartoryska B
Medicina (Kaunas)
2011;47(7):405-11.
PMID: 22112991
Neri M,
Ricca A,
di Girolamo I,
Alcala'-Franco B,
Cavazzin C,
Orlacchio A,
Martino S,
Naldini L,
Gritti A
Stem Cells
2011 Oct;29(10):1559-71.
doi: 10.1002/stem.701.
PMID: 21809420Free PMC Article
Zimran A,
Elstein D,
Levy-Lahad E,
Zevin S,
Hadas-Halpern I,
Bar-Ziv Y,
Foldes J,
Schwartz AJ,
Abrahamov A
Lancet
1995 Jun 10;345(8963):1479-80.
doi: 10.1016/s0140-6736(95)91038-7.
PMID: 7769903
Prognosis
Hülsmeier AJ,
Toelle SP,
Bellstedt P,
Wentzel C,
Bahr A,
Kolokotronis K,
Hornemann T
J Lipid Res
2023 Dec;64(12):100464.
Epub 2023 Oct 27
doi: 10.1016/j.jlr.2023.100464.
PMID: 37890668Free PMC Article
Tastemel Ozturk T,
Canpolat N,
Saygili S,
Bayrakci US,
Soylemezoglu O,
Ozaltin F,
Topaloglu R
Pediatr Nephrol
2023 Mar;38(3):711-719.
Epub 2022 Jun 24
doi: 10.1007/s00467-022-05656-5.
PMID: 35748945
Hagège A,
Réant P,
Habib G,
Damy T,
Barone-Rochette G,
Soulat G,
Donal E,
Germain DP
Arch Cardiovasc Dis
2019 Apr;112(4):278-287.
Epub 2019 Feb 28
doi: 10.1016/j.acvd.2019.01.002.
PMID: 30826269
Choi YJ,
Saba JD
Adv Biol Regul
2019 Jan;71:128-140.
Epub 2018 Sep 25
doi: 10.1016/j.jbior.2018.09.004.
PMID: 30274713Free PMC Article
Di Lazzaro V,
Marano M,
Florio L,
De Santis S
Int J Neurosci
2016 Nov;126(11):963-71.
Epub 2016 Mar 29
doi: 10.3109/00207454.2016.1161623.
PMID: 26998855
Clinical prediction guides
Dolgin V,
Straussberg R,
Xu R,
Mileva I,
Yogev Y,
Khoury R,
Konen O,
Barhum Y,
Zvulunov A,
Mao C,
Birk OS
Eur J Hum Genet
2019 Nov;27(11):1668-1676.
Epub 2019 Jun 11
doi: 10.1038/s41431-019-0444-z.
PMID: 31186544Free PMC Article
Hagège A,
Réant P,
Habib G,
Damy T,
Barone-Rochette G,
Soulat G,
Donal E,
Germain DP
Arch Cardiovasc Dis
2019 Apr;112(4):278-287.
Epub 2019 Feb 28
doi: 10.1016/j.acvd.2019.01.002.
PMID: 30826269
Choi YJ,
Saba JD
Adv Biol Regul
2019 Jan;71:128-140.
Epub 2018 Sep 25
doi: 10.1016/j.jbior.2018.09.004.
PMID: 30274713Free PMC Article
Newton J,
Milstien S,
Spiegel S
Adv Biol Regul
2018 Dec;70:82-88.
Epub 2018 Aug 28
doi: 10.1016/j.jbior.2018.08.001.
PMID: 30205942Free PMC Article
Spassieva S,
Bieberich E
J Neurosci Res
2016 Nov;94(11):974-81.
doi: 10.1002/jnr.23888.
PMID: 27638582Free PMC Article