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A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS. Lerat J, et al. J Peripher Nerv Syst. 2017 Jun;22(2):77-84. doi: 10.1111/jns.12216. J Peripher Nerv Syst. 2017. PMID: 28448692 Review.
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at differe …
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, H …
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA. Wortmann SB, et al. J Inherit Metab Dis. 2015 Jan;38(1):99-110. doi: 10.1007/s10545-014-9759-7. Epub 2014 Sep 2. J Inherit Metab Dis. 2015. PMID: 25178427 Review.
Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, …
Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far …
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Lamari F, Mochel F, Sedel F, Saudubray JM. Lamari F, et al. J Inherit Metab Dis. 2013 May;36(3):411-25. doi: 10.1007/s10545-012-9509-7. Epub 2012 Jul 20. J Inherit Metab Dis. 2013. PMID: 22814679 Review.
Spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larsson syndrome caused by fatty aldehyde dehydrogenase deficiency. Spastic paraplegia and muscle wasting are also seen in patients with m …
Spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larss …
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J. Li T, et al. Gene. 2019 Jul 1;704:113-120. doi: 10.1016/j.gene.2019.04.008. Epub 2019 Apr 8. Gene. 2019. PMID: 30974196 Review.
Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. ...Mutation of ABHD12, an enzyme that hydrolyzes an endocannabinoid lipid transmitter, …
Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural …