Marinesco-Sjögren Syndrome.
Anttonen AK.
2006 Nov 29 [updated 2024 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Serine Deficiency Disorders.
van der Crabben SN, de Koning TJ.
2023 Jun 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
Begeer JH, Scholte FA, van Essen AJ.
J Med Genet. 1991 Dec;28(12):884-5. doi: 10.1136/jmg.28.12.884.
Zellweger Spectrum Disorder.
Steinberg SJ, Raymond GV, Braverman NE, Moser AB.
2003 Dec 12 [updated 2020 Oct 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Cerebrotendinous xanthomatosis revisited.
Baghbanian SM, Mahdavi Amiri MR, Majidi H.
Pract Neurol. 2021 Jun;21(3):243-245. doi: 10.1136/practneurol-2020-002895. Epub 2021 Apr 14.
Cerebrotendinous Xanthomatosis.
Carson BE, De Jesus O.
2023 Aug 23. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Cerebrotendinous Xanthomatosis.
Patni N, Wilson DP.
2023 Mar 8. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
CLPB Deficiency.
Wortmann SB, Wevers RA.
2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Mitochondriopathies.
Finsterer J.
Eur J Neurol. 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x.
Huppke-Brendel Syndrome.
Parayil Sankaran B, Chiplunkar S, Vandana VP, Nagappa M, Govindaraj P, Taly AB.
2019 Jun 13 [updated 2025 Apr 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
