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Search Results for - CAH - 3 BETA-DEHYDROGENASE DEFICIENCY

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ID
 
Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
 
Fibroblast
 
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
 
DNA
 
Fibroblast
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
 
LCL
 
B-Lymphocyte
 
 
 
 
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
 
Fibroblast
 
 
 
 
 
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
 
DNA
 
Fibroblast
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
DNA
 
Fibroblast
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
DNA
 
Fibroblast
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
Fibroblast
 
 
 
 
 
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
DNA
 
Fibroblast
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
DNA
 
LCL
 
 
 
 
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
 
DNA
 
Fibroblast
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
DNA
 
Fibroblast
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
Fibroblast
 
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
Fibroblast
 
 
 
 
 
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
 
Fibroblast
 
Skin, Skin
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
DNA
 
LCL
 
 
 
 
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
 
DNA
 
Fibroblast
 
 
 
 
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
 
Fibroblast
 
 
 
 
 
TRIFUNCTIONAL PROTEIN DEFICIENCY | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT; HADHB
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
 
Fibroblast
 
 
 
 
 
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
DNA
 
Fibroblast
 
 
 
 
TRIFUNCTIONAL PROTEIN DEFICIENCY | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT; HADHB
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
DNA
 
LCL
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
 
DNA
 
LCL
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
DNA
 
Fibroblast
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
 
Fibroblast
 

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