Evaluating the Scope of Language Impairments in a Patient with Triple X Syndrome: A Brief Report
Sign Up to like & getrecommendations! Published in 2020 at "Developmental Neurorehabilitation"
DOI: 10.1080/17518423.2020.1764652
Abstract: ABSTRACT The phenotype of triple X syndrome comprises a variety of physical, psychiatric, and cognitive features. Recent evidence suggests that patients are prone to severe language impairments. However, it remains unclear whether verbal impairments are… read more here.
Keywords: patient triple; triple syndrome; language impairments; language ... See more keywords
Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child
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DOI: 10.1159/000465520
Abstract: Introduction: Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients’ fibroblasts in vitro, may be a… read more here.
Keywords: increased oxidative; acetylcysteine; triple syndrome; treatment ... See more keywords
Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor
Sign Up to like & getrecommendations! Published in 2022 at "European Psychiatry"
DOI: 10.1192/j.eurpsy.2022.2355
Abstract: Abstract Background Women with triple X syndrome (TXS) have an extra X chromosome. TXS appeared to be associated with psychiatric disorders in biased or underpowered studies. Aim This study aims to describe the prevalence of… read more here.
Keywords: impaired social; psychiatric disorders; triple syndrome; group ... See more keywords
Compensation for chronic oxidative stress in ALADIN null mice
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DOI: 10.1242/bio.030742
Abstract: ABSTRACT Mutations in the AAAS gene coding for the nuclear pore complex protein ALADIN lead to the autosomal recessive disorder triple A syndrome. Triple A patients present with a characteristic phenotype including alacrima, achalasia and… read more here.
Keywords: chronic oxidative; triple syndrome; mice; aladin null ... See more keywords
Refractory hypokalemia with sexual dysplasia and infertility caused by 17α-hydroxylase deficiency and triple X syndrome: A case report
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DOI: 10.1515/biol-2022-0548
Abstract: Abstract The present study reports a patient case with a 17α-hydroxylase deficiency accompanied by triple X syndrome. A 17α-hydroxylase deficiency leads to a very low 17α-hydroxylated steroid synthesis as well as a non-feedback increase in… read more here.
Keywords: sexual dysplasia; level; triple syndrome; case ... See more keywords
Triple-A Syndrome (TAS): an in-depth overview on genetic and phenotype heterogeneity.
Sign Up to like & getrecommendations! Published in 2020 at "Protein and peptide letters"
DOI: 10.2174/0929866527666200613215449
Abstract: Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have been described in association… read more here.
Keywords: phenotype; depth overview; tas depth; triple syndrome ... See more keywords
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2021.729056
Abstract: Objective Experimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic nerve… read more here.
Keywords: window neurodegeneration; retina patients; syndrome window; triple syndrome ... See more keywords