Search Results - "Huisman, S A"
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Natural history in Malan syndrome: survey of 28 adults and literature review
Published in Orphanet journal of rare diseases (29-07-2024)“…Malan syndrome (MALNS), previously referred to as "Sotos syndrome 2" due to its resemblance to Sotos syndrome (SS), is an ultra-rare neurodevelopmental…”
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High rate of autonomic neuropathy in Cornelia de Lange Syndrome
Published in Orphanet journal of rare diseases (30-10-2021)“…Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb…”
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Down syndrome: a cardiovascular perspective
Published in Journal of intellectual disability research (01-05-2009)“…This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated…”
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Appearance of Focal Nodular Hyperplasia after Chemotherapy in Two Patients during Follow-Up of Colon Carcinoma
Published in Case reports in surgery (2021)“…Surgical liver resection is a treatment option in patients with resectable colorectal liver metastases. We present two cases of focal nodular hyperplasia (FNH)…”
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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
Published in Molecular syndromology (01-03-2013)“…The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting…”
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Inhibition of activin-like kinase 4/5 attenuates cancer cachexia associated muscle wasting
Published in Scientific reports (08-07-2019)“…Cancer mediated activation of the ActRIIB-ALK4/5 heterodimer by myostatin is strongly associated with muscle wasting. We investigated in vitro and in vivo the…”
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Adults with Down syndrome have reduced cardiac response after light exercise testing
Published in Netherlands heart journal (01-06-2012)“…Objective Physical fitness is reduced in adults with Down syndrome (DS). The present study was conducted to elucidate the exercise response in adults with DS…”
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2 days versus 5 days of postoperative antibiotics for complex appendicitis: a pragmatic, open-label, multicentre, non-inferiority randomised trial
Published in The Lancet (British edition) (04-02-2023)“…The appropriate duration of postoperative antibiotics for complex appendicitis is unclear. The increasing global threat of antimicrobial resistance warrants…”
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Somatic comorbidity in children and adults with intellectual disability and mental health problems.
Published in Tijdschrift voor psychiatrie (2019)“…People with intellectual disability (id) frequently suffer from somatic and psychiatric comorbidity. Somatic morbidity can be the cause and the result of…”
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Congenital heart defects are under-recognised in adult patients with Down's syndrome
Published in Heart (British Cardiac Society) (01-09-2010)“…Congenital heart defects (CHD) are common in patients with Down's syndrome; however, patients living in residential centres have not always been screened for…”
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Evaluation of educational effects on knowledge, skills and attitudes of third year medical students
Published in Journal of intellectual disability research (01-06-2004)Get full text
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Evidence of obesity management in people with Prader Willi syndrome (PWS)
Published in Journal of intellectual disability research (01-06-2004)Get full text
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