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AB - Many mutations of the housekeeping gene encoding glucose-6-phosphate dehydrogenase ( G6PDcauseG6PD deficiency in humans
Mahidol University 1-Jan-1976 Food habitscausingthiamine deficiency in humans S. Vimokesant
These specific amino acids and regions ... missense mutationscausebiotinidase deficiency in humans
These specific amino acids and regions ... the location of missense mutationscausebiotinidase deficiency in humans
a chemical called thiaminasemay leadto thiamine deficiency in humans
simple nutritional deprivation of this vitaminto causea deficiency in humans
the soil of its magnesium contentcan causedeficiency in humans
O'Rahilly 's group ... the firstto discoverleptin deficiency in humans
hyperactive(passive) to be caused byDeficiency of SOST in humans
a point mutation ( R248W ) in the large subunit of the catalytic domain ( 66(passive) caused bycaspase-8 deficiency in humans
an autoimmune processcauseshypocretin - deficiency in humans
orderto preventdeficiency in humans
In fact , factory farmed animals are given B12 supplementsto preventdeficiency in humans
the nutritional composition of animal - pollinated plants and nutrient requirementsto preventdeficiency in humans
Sulphur dioxide is knownto causethiamine deficiency in humans & animals
an X - linked lymphoproliferative syndrome in NATURE 2015 - 12causesan X - linked lymphoproliferative syndrome in NATURE 2015 - 12
an X - linked lymphoproliferative syndrome , Nature , vol.101 , issue.7115 , pp.110 - 114 , 2006causesan X - linked lymphoproliferative syndrome , Nature , vol.101 , issue.7115 , pp.110 - 114 , 2006
to a variety of clinical abnormalities including cardiovascular disorders ( e.g. , peripheral vasodilatation , biventricular myocardial failure , edema , and potentially acute fulminant cardiovascular collapse ) and neurological disorders ( e.g. , confusion , disordered ocular motility , neuropathy , and ataxia of gaitleadsto a variety of clinical abnormalities including cardiovascular disorders ( e.g. , peripheral vasodilatation , biventricular myocardial failure , edema , and potentially acute fulminant cardiovascular collapse ) and neurological disorders ( e.g. , confusion , disordered ocular motility , neuropathy , and ataxia of gait
hematopoietic defects associated with sensorineural deafness.[6][7causeshematopoietic defects associated with sensorineural deafness.[6][7
to severe IFNopathies and mycobacterial disease , the latter being previously attrileadsto severe IFNopathies and mycobacterial disease , the latter being previously attri
ggamma - hydroxybutyric aciduria GENERIF , Score=861causesggamma - hydroxybutyric aciduria GENERIF , Score=861
to enhanced susceptibility to infection and development of lupus - like autoimmune disease with essentially complete penetranceleadsto enhanced susceptibility to infection and development of lupus - like autoimmune disease with essentially complete penetrance
Danon diseasecausesDanon disease
hematopoietic defects associated with sensorineural deafness.[24 ] Recticular dysgenesis is an autosomal recessive form of human combined immunodeficiencycauseshematopoietic defects associated with sensorineural deafness.[24 ] Recticular dysgenesis is an autosomal recessive form of human combined immunodeficiency
to multisystemic mitochondrial diseaseleadsto multisystemic mitochondrial disease
to a disease known as Beriberimay leadto a disease known as Beriberi
nonspherocytic hemolytic disease ( ANEMIA , HEMOLYTIC , CONGENITAL NONSPHEROCYTICcausesnonspherocytic hemolytic disease ( ANEMIA , HEMOLYTIC , CONGENITAL NONSPHEROCYTIC
to sulfatide accumulation and neurodegenerative diseaseleadsto sulfatide accumulation and neurodegenerative disease
heart muscle and heart diseasecan causeheart muscle and heart disease
to a rare form of nonspherocytic hemolytic anemialeadsto a rare form of nonspherocytic hemolytic anemia
anemia and low birth - weight infantsoften causesanemia and low birth - weight infants
to a skeletal disorder characterized by progressive bone overgrowth considered to be caused by hyperactiveleadsto a skeletal disorder characterized by progressive bone overgrowth considered to be caused by hyperactive
a neurodegenerative disorder ... infantile neuronal ceroid lipofuscinosis ( also known as infantile Batten diseasecausesa neurodegenerative disorder ... infantile neuronal ceroid lipofuscinosis ( also known as infantile Batten disease
an X - linked lymphoproliferative syndrome | Nature Stéphanie Rigaud1,2 na1 , Marie - Claude Fondanèche1,2 na1 , Nathalie Lambert1,2,3 , Benoit Pasquier1,2 , Véronique Mateo1,2 , Pauline Soulas1,2 , Lionel Galicier4 , Françoise Le Deist1,2,3 , Frédéric Rieux - Laucat1,2 , Patrick Revy1,2 , Alain Fischer1,2,5 , Geneviève de Saint Basile1,2 & Sylvain Latour1,2 Naturevolume 444 , pages110–114 ( 2006causesan X - linked lymphoproliferative syndrome | Nature Stéphanie Rigaud1,2 na1 , Marie - Claude Fondanèche1,2 na1 , Nathalie Lambert1,2,3 , Benoit Pasquier1,2 , Véronique Mateo1,2 , Pauline Soulas1,2 , Lionel Galicier4 , Françoise Le Deist1,2,3 , Frédéric Rieux - Laucat1,2 , Patrick Revy1,2 , Alain Fischer1,2,5 , Geneviève de Saint Basile1,2 & Sylvain Latour1,2 Naturevolume 444 , pages110–114 ( 2006
to neutrophil dysfunction and chronic granulomatous disease ( CGDleadsto neutrophil dysfunction and chronic granulomatous disease ( CGD
some serious diseases , such as cardiovascular disease , infertility , and even deathcould causesome serious diseases , such as cardiovascular disease , infertility , and even death
to a variety of phenotypes including Leigh syndrome , a neurometabolic disorder , tumor formation , and myopathyleadsto a variety of phenotypes including Leigh syndrome , a neurometabolic disorder , tumor formation , and myopathy
to high cholesterol and triglyceride levels and increase susceptibility to heart disease and cancermay leadto high cholesterol and triglyceride levels and increase susceptibility to heart disease and cancer
veno - occlusive disease with immunodeficiency ( VODI , OMIM : 235550 ) , a rare and often fatal primary immunodeficiencycausesveno - occlusive disease with immunodeficiency ( VODI , OMIM : 235550 ) , a rare and often fatal primary immunodeficiency
to severe growth retardation , persistent hemolytic anemia , severe persistent endothelial damage , as well as iron deposition in renal and hepatic tissues 148 , 149leadingto severe growth retardation , persistent hemolytic anemia , severe persistent endothelial damage , as well as iron deposition in renal and hepatic tissues 148 , 149
to various symptoms , including weight loss , memory disruption , sleep disorders and the skin disease pellagra , all of which can be treated by administering nicotinamideleadsto various symptoms , including weight loss , memory disruption , sleep disorders and the skin disease pellagra , all of which can be treated by administering nicotinamide
to a variety of abnormalities including neurological and cardiovascular disorders ( 3 , 41 , 45leadsto a variety of abnormalities including neurological and cardiovascular disorders ( 3 , 41 , 45
to a variety of clinical abnormalities that includes neurological and cardiovascular disorders ( 31 , 33leadsto a variety of clinical abnormalities that includes neurological and cardiovascular disorders ( 31 , 33
to serious clinical abnormalities that include cardiovascular and neurological disordersleadsto serious clinical abnormalities that include cardiovascular and neurological disorders
to protein - deficient diseases such as muscle wasting , swelling due to water retention , low blood pressure and heart rate , anaemia and liver problemshas ledto protein - deficient diseases such as muscle wasting , swelling due to water retention , low blood pressure and heart rate , anaemia and liver problems
TTPcausesTTP
thymic dysplasia and decreased Hassall ’s corpuscles [ 48causesthymic dysplasia and decreased Hassall ’s corpuscles [ 48
spinocerebeller ataxia with axonal neuropathy ( SCAN1causesspinocerebeller ataxia with axonal neuropathy ( SCAN1
congenital nonspherocytic haemolytic anaemia and severe neurological deficitscausescongenital nonspherocytic haemolytic anaemia and severe neurological deficits
similar teratogenic effectscausessimilar teratogenic effects
a complete absence of ciliary ODAs resulting in immotile cilia ( 11,12causesa complete absence of ciliary ODAs resulting in immotile cilia ( 11,12
to intellectual disability , epilepsy and ataxia ... and that Tdp2 knockout mice have significantly reduced interneuron density in the molecular layer of the cerebellum ... 12leadsto intellectual disability , epilepsy and ataxia ... and that Tdp2 knockout mice have significantly reduced interneuron density in the molecular layer of the cerebellum ... 12
to severe combined immunodeficiency consistent with a defect in lymphocyte antigen receptor gene assembly by V(D)J recombination , a reaction that requires the generation of DNA DSBs by the RAG endonuclease and their repair by NHEJ ( Fugmann et al . , 2000leadsto severe combined immunodeficiency consistent with a defect in lymphocyte antigen receptor gene assembly by V(D)J recombination , a reaction that requires the generation of DNA DSBs by the RAG endonuclease and their repair by NHEJ ( Fugmann et al . , 2000
to a failure to maintain adequate levels of USP18leadsto a failure to maintain adequate levels of USP18
blood clots , immune dysfunction , lung disorders , cancer and dementiacan causeblood clots , immune dysfunction , lung disorders , cancer and dementia