2016
DOI: 10.1183/16000617.0017-2016
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Why we should care about ultra-rare disease

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Cited by 38 publications
(27 citation statements)
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References 13 publications
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“…The overall delay in diagnosis is attributable to parents not seeking help for symptoms (presentation delay), which is likely to be due to a lack of public awareness of the condition and the symptoms being initially subtle (“Is the child just a bit clumsy toddler or developing ataxia?”). The diagnostic delay—the time it takes a medical professional on average to diagnose A-T–is likely to be due to the fact it is an ultra-rare disease10 that many health professionals do not consider when assessing a child. It is recognised that major efforts are also needed to train specialists with enough expertise to promptly recognise ultra-rare diseases, explore differential diagnoses and offer the most advanced treatment options 10.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…The overall delay in diagnosis is attributable to parents not seeking help for symptoms (presentation delay), which is likely to be due to a lack of public awareness of the condition and the symptoms being initially subtle (“Is the child just a bit clumsy toddler or developing ataxia?”). The diagnostic delay—the time it takes a medical professional on average to diagnose A-T–is likely to be due to the fact it is an ultra-rare disease10 that many health professionals do not consider when assessing a child. It is recognised that major efforts are also needed to train specialists with enough expertise to promptly recognise ultra-rare diseases, explore differential diagnoses and offer the most advanced treatment options 10.…”
Section: Discussionmentioning
confidence: 99%
“…The diagnostic delay—the time it takes a medical professional on average to diagnose A-T–is likely to be due to the fact it is an ultra-rare disease10 that many health professionals do not consider when assessing a child. It is recognised that major efforts are also needed to train specialists with enough expertise to promptly recognise ultra-rare diseases, explore differential diagnoses and offer the most advanced treatment options 10. The article aims to increase awareness of A-T and help clinicians make the diagnosis by being more aware of the presenting symptoms and the use of AFP.…”
Section: Discussionmentioning
confidence: 99%
“…Multiple acyl‐CoA dehydrogenase deficiency (MADD, or glutaric aciduria type II; MIM #231680) is an ultra‐rare (ie, <1:50 000) mitochondrial fatty acid oxidation (FAO) disorder caused by pathogenic variants in the genes encoding the electron transfer flavoproteins (ETFs; ETFA or ETFB ) or ETF dehydrogenase ( ETFDH ). The disrupted transfer of reduced flavin adenine dinucleotides toward the mitochondrial respiratory chain results in an impaired mitochondrial FAO and accumulation of toxic metabolites .…”
Section: Introductionmentioning
confidence: 99%
“…The answer can be found in the editorial with which I made my debut as the Chief Editor of the European Respiratory Review (ERR): our intention is to open the review up to specialists from a wide range of fields, strenuously emphasise the interdisciplinary nature of respiratory medicine and modern medicine in general and, just as importantly, tackle topics of common interest to our readers, such as healthcare organisation and policies [5].…”
Section: @Erspublicationsmentioning
confidence: 99%