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dehydrogenase mutationscausingsevere enzyme deficiency
the particular mutations(passive) caused byenzyme deficiency
heterogeneous mutations(passive) is caused byThe enzyme deficiency
Mutations in GBA1leadsto GBA1 enzyme deficiency
Inherited mutationsresultin PAH enzyme deficiency
Bgal mutationscausingenzyme deficiency
Important mutationsleadingto enzyme deficiency
aspartoacylase ( ASPA ) gene mutationsresultingenzyme deficiency
genetic mutations , which c(passive) is caused byThe enzyme deficiency
mutations in the GLA - gene(passive) is caused byEnzyme deficiency
mutations in the HSD17B4 gene(passive) is caused byD - bifunctional enzyme deficiency
mutations of the UROS gene(passive) is caused byThe enzyme deficiency
The disease ... a genetic mutationcausesan enzyme deficiency
the additional mutations in these G6PD variantscontributeto enzyme deficiency
one of several MTHFR gene mutations(passive) caused byMTHFR enzyme deficiency
an MTHFR genetic mutation(passive) prompted byan enzyme deficiency
mutations in a particular enzyme interaction(passive) caused byan enzyme deficiency
mutations in the enzyme phenylalanine hydroxylase(passive) caused byan enzyme deficiency
human Arg(41 ) mutationscausedrastic enzyme deficiency
Fabry DiseaseFabry disease ... a defective gene ( GLAcausesan enzyme deficiency
more than 130 different mutations ... the G6PD generesultin enzyme deficiency
Beutler E. Six previously undescribed pyruvate kinase mutationscausingenzyme deficiency
Galafold ... a defective gene ( GLAcausesan enzyme deficiency
genetic mutations which result in the production of misfolded GCase protein(passive) is caused byThe enzyme deficiency
recessive mutations in the nuclear gene COX10(passive) is caused byThe enzyme deficiency
mutations in the ALAD gene coded for ALA - D(passive) is caused byThe enzyme deficiency
Fabry Disease Fabry disease ... a defective gene ( GLAcausesan enzyme deficiency
a high proportion of the mutations at the STS locusleadingto enzyme deficiency
human Arg{sup 41 } mutationscausedrastic enzyme deficiency
CLN2 disease patients have mutations in the TPP1 geneleadingto TPP1 enzyme deficiency
GBA1 mutation(passive) caused bythe enzyme deficiency
Porphyria ... a mutationleadsto an enzyme deficiency
mutations in the HLCS gene located at the 21q22 [ 8(passive) is caused byHLCS enzyme deficiency
Aspartoacylase ( ASPA ) gene mutationresultingenzyme deficiency
Jul 15;92(2):647 - 52.Six previously undescribed pyruvate kinase mutationscausingenzyme deficiency
a single defective gene in bone - marrow cells(passive) caused byan enzyme deficiency
A few common factorsmay contributeto an enzyme deficiency
various factors(passive) can be caused byAn enzyme deficiency
multiple factors(passive) is caused byEnzyme deficiency
All of these factors combinedleadan enzyme deficiency
another rare genetic disease(passive) caused byanother rare genetic disease
To Disease and DegenerationLeadsTo Disease and Degeneration
Farber diseasecausesFarber disease
in severe liver disease in infancyresultsin severe liver disease in infancy
a type of Batten disease(passive) caused bya type of Batten disease
a dangerous genetically inherited disease(passive) caused bya dangerous genetically inherited disease
a progressive neurodegenerative disease(passive) caused bya progressive neurodegenerative disease
a severe muscle disease(passive) caused bya severe muscle disease
a lipid storage disease(passive) caused bya lipid storage disease
a rare , progressive disease(passive) caused bya rare , progressive disease
a rare and fatal disease(passive) caused bya rare and fatal disease
a rare but oftendeadly disease(passive) caused bya rare but oftendeadly disease
A rare pigmentary disease(passive) is caused byA rare pigmentary disease
a rare but deadly disease(passive) caused bya rare but deadly disease
a genetic blood disease(passive) caused bya genetic blood disease
a tough - to - treat disease(passive) caused bya tough - to - treat disease
an autosomal recessive lysosomal storage disease(passive) caused byan autosomal recessive lysosomal storage disease
a bone and connective tissue disease(passive) caused bya bone and connective tissue disease
a rare but often - deadly disease(passive) caused bya rare but often - deadly disease
a fatal genetic childhood disease(passive) caused bya fatal genetic childhood disease
a progressive and eventually fatal disease(passive) caused bya progressive and eventually fatal disease
early - infantile Krabbe disease(passive) caused byearly - infantile Krabbe disease
a genetically determined blood disease(passive) caused bya genetically determined blood disease
a rare and steadily debilitating disease(passive) caused bya rare and steadily debilitating disease
Gaucher disease , the most common lysosomal storage disordercausingGaucher disease , the most common lysosomal storage disorder
in a fatal neurological disorder- a lysosomal storage diseasegenerally resultingin a fatal neurological disorder- a lysosomal storage disease
symptoms of Gaucher disease , which affects people at any ageprimarily causessymptoms of Gaucher disease , which affects people at any age
an X - linked , hereditary , lysosomal storage disease(passive) caused byan X - linked , hereditary , lysosomal storage disease
some frequency among Ashkenazi Jews , Gaucher Disease(passive) caused bysome frequency among Ashkenazi Jews , Gaucher Disease
to accumulation of glycogen ( disease substrate ... in cellsleadsto accumulation of glycogen ( disease substrate ... in cells
a uniformally fatal genetic disease in Portuguese water dogs(passive) caused bya uniformally fatal genetic disease in Portuguese water dogs
to growth problems , dermatitis , alopecia , perosis ( thickening of bones ) and fatty liver diseasecan leadto growth problems , dermatitis , alopecia , perosis ( thickening of bones ) and fatty liver disease
in gluten sensitivities and ultimately celiac diseaseresultingin gluten sensitivities and ultimately celiac disease
an autosomal recessive degenerative neurological disease(passive) caused byan autosomal recessive degenerative neurological disease
a rare hereditary disease of autosomal recessive(passive) caused bya rare hereditary disease of autosomal recessive
Gaucher ( pronounced go - shay ) disease(passive) is caused byGaucher ( pronounced go - shay ) disease
a rare , progressive , debilitating , and relentless disease(passive) caused bya rare , progressive , debilitating , and relentless disease
to disease symptoms in Prader - Willi syndrome May 29 , 2017contributesto disease symptoms in Prader - Willi syndrome May 29 , 2017
to disease symptoms in Prader - Willi syndrome Nov 8 , 2018contributesto disease symptoms in Prader - Willi syndrome Nov 8 , 2018
Most lysosomal storage diseases , including the childhood metabolic disease Mucopolysaccharidosis I ( MPS I(passive) are caused byMost lysosomal storage diseases , including the childhood metabolic disease Mucopolysaccharidosis I ( MPS I