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mutations in the gene encoding the neutral amino acid transporter SLC6A19 | Research Repository | Victoria University | Melbourne Australia Hartnup disorder(passive) is caused byHartnup disorder
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mutations in the neutral amino acid transporter B(0(passive) is caused byHartnup disorder
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CCDC47 variants ( 2018 , November 19(passive) caused bymultisystem disorder
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mutations in the gene encoding SLC6A19 ( 42 , 43(passive) is caused byHartnup disorder
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CCDC47 variants Marie Morimoto et al , Bi - allelic(passive) caused bymultisystem disorder
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childhood trauma after a short spell in hospital(passive) caused bydisassociative disorder
inherited genetic mutations in the GBA gene(passive) caused byPliceraTM disorder
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Kleta R. , Romeo E. , Ristic Z. , Ohura T. , Stuart C. , Arcos - Burgos M. , Dave M.H. , Wagner C.A. , Camargo S.R.M. , Inoue S. , Matsuura N. , Helip - Wooley A. , Bockenhauer D. , Warth R. , Bernardini I. , Visser G. , Eggermann T. , Lee P. , Chairoungdua A. , Jutabha P. , Babu E. , Nilwarangkoon S. , Anzai N. , Kanai Y. , Verrey F. , Gahl W.A. , Koizumi A. Mutations in SLC6A19 , encoding BoAT1causeHartnup disorder
Kleta R , Romeo E , Ristic Z , Ohura T , Stuart C , Arcos - Burgos M , Dave MH , Wagner CA , Camargo SRM , Inoue S , Matsuura N , Helip - Wooley A , Bockenhauer D , Warth R , Bernardini I , Visser G , Eggermann T , Lee P , Chairoungdua A , Jutabha P , Babu E , Nilwarangkoon S , Anzai N , Kanai Y , Verrey F , Gahl WA , Koizumi A. Mutations in SLC6A19 , encoding BoAT1causeHartnup disorder
bi - allelic variants in CCDC47 gene Tagged with(passive) caused bymultisystem disorder
biallelic mutations in the lysosomal trafficking regulator gene , LYST(passive) caused byLRO ) disorder
missense mutations in the mitochondrial gene coding for lysine tRNA(passive) is frequently caused byMERRF)—This disorder
mutations in thegene encoding the neutral amino acid transporter(passive) is caused byHartnup disorder
mutations in ABAT and resulting in accumulation of GABA in the cerebrospinal fluid ( CSF(passive) caused byneurometabolic disorder
recessive mutations in the RGS9 ( chromosome 17q23-q24 ) or R9AP ( chromosome 19q13.11 ) genes(passive) is caused byEtiologyThe disorder
severe physical scarring and disfigurement.[3can causesevere physical scarring and disfigurement.[3
severe physical scarring and disfigurement.[2can causesevere physical scarring and disfigurement.[2
serious morbidity and mortalitycan causeserious morbidity and mortality
to significant distress and impairment in personal , family , social and other thingsleadsto significant distress and impairment in personal , family , social and other things
to deliberately and consciously self inflicted injuries aimed at satisfying unconscious emotional needsleadingto deliberately and consciously self inflicted injuries aimed at satisfying unconscious emotional needs
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people to make up illnesses to get sympathy from otherscausespeople to make up illnesses to get sympathy from others
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communication problems , social challenges , difficult behaviors or intellectual disabilitycan causecommunication problems , social challenges , difficult behaviors or intellectual disability
blindness is high among people with type 1 diabetescan causeblindness is high among people with type 1 diabetes
people to swing between mood extremes , sometimes rapidly , usually with severe or extreme mood episodescausespeople to swing between mood extremes , sometimes rapidly , usually with severe or extreme mood episodes
in probably daily life - threatening systemic diseases like heart disease and diabetes ( fivecan resultin probably daily life - threatening systemic diseases like heart disease and diabetes ( five
in a body ’s aging , tumors , acute inflammation , wounds , chronic ulcers , hepatitis , cirrhosis , senile hypertension , diabetes and cardiovascular and cerebral vascular diseases among otherscould resultin a body ’s aging , tumors , acute inflammation , wounds , chronic ulcers , hepatitis , cirrhosis , senile hypertension , diabetes and cardiovascular and cerebral vascular diseases among others
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more functional impairment than physicalcausesmore functional impairment than physical
multiple bodily symptoms such as paincausingmultiple bodily symptoms such as pain
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to non - compliance or inhibit rehabilitation of the patientcould leadto non - compliance or inhibit rehabilitation of the patient
in costs totaling well over $ 40 million per yearmay resultin costs totaling well over $ 40 million per year
real physical , mental , and emotional harmcan causereal physical , mental , and emotional harm
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a person to chronically complain of a variety of symptoms that can not be linked to any physical causecausesa person to chronically complain of a variety of symptoms that can not be linked to any physical cause
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psychological suffering that can not be denominated or even sometimes thought ofcausespsychological suffering that can not be denominated or even sometimes thought of
impairment in social or occupational functioningmust causeimpairment in social or occupational functioning
clinically significant deterioration of social , academic or work activitycausesclinically significant deterioration of social , academic or work activity
cholesterol to be very highcausingcholesterol to be very high
the patient to suffer from problems with pitch , loudness or the stress of on words with voice which starts from the vocal folds of the larynxcausesthe patient to suffer from problems with pitch , loudness or the stress of on words with voice which starts from the vocal folds of the larynx