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Search Results for -
GSD
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Also searched for:
1,4,ALPHA-GLUCAN 6-ALPHA-GLUCOSYLTRANSFERASE DEFICIENCY
ACID ALPHA-GLUCOSIDASE DEFICIENCY
ACID MALTASE DEFICIENCY
AGL DEFICIENCY
ALPHA-1,4-GLUCOSIDASE DEFICIENCY
ALPHA-GLUCOSIDASE DEFICIENCY
AMD
AMD - ACID MALTASE DEFICIENCY
AMYLO-1,6-GLUCOSIDASE DEFICIENCY
AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY
AMYLOPECTINOSIS
ANDERSEN DISEASE
ANDERSEN'S DISEASE
BRANCHER DEFICIENCY
BRANCHER DEFICIENCY GLYCOGEN STORAGE DISEASE
BRANCHING ENZYME DEFICIENCY
BRANCHING-TRANSFERASE DEFICIENCY GLYCOGENOSIS
CARDIOMEGALIA GLYCOGENICA DIFFUSA
CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS
CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN
CORI DISEASE
CORI'S DISEASE
DEBRANCHER DEFICIENCY GLYCOGEN STORAGE DISEASE
DEBRANCHER ENZYME DEFICIENCY
DEFICIENCY OF 1,4-ALPHA-GLUCAN BRANCHING ENZYME
DEFICIENCY OF ACID MALTASE
DEFICIENCY OF ALPHA-GLUCOSIDASE
DEFICIENCY OF AMYLO-(1,4,6)-TRANSGLYCOSYLASE
DEFICIENCY OF AMYLOGLUCOSIDASE
DEFICIENCY OF BRANCHING ENZYME
DEFICIENCY OF EXO-1,4-ALPHA-GLUCOSIDASE
DEFICIENCY OF GAMMA-AMYLASE
DEFICIENCY OF GLUCAN 1,4-ALPHA-GLUCOSIDASE
DEFICIENCY OF GLUCOAMYLASE
DEFICIENCY OF GLUCOINVERTASE
DEFICIENCY OF GLUCOSE-6-PHOSPHATASE
DEFICIENCY OF GLUCOSIDOSUCRASE
DEFICIENCY OF MALTASE
ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE
FORBES DISEASE
GAA DEFICIENCY
GBE1 DEFICIENCY
GDE DEFICIENCY
GENERALIZED GLYCOGENOSIS
GERSTMANN-STRAUSSLER DISEASE
GERSTMANN-STRAUSSLER-SCHEINKER DISEASE
GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME
GLUCOSE-6-PHOSPHATASE DEFICIENCY
GLYCOGEN BRANCHING ENZYME DEFICIENCY
GLYCOGEN DEBRANCHER DEFICIENCY
GLYCOGEN STORAGE DISEASE I
GLYCOGEN STORAGE DISEASE IA
GLYCOGEN STORAGE DISEASE II
GLYCOGEN STORAGE DISEASE III
GLYCOGEN STORAGE DISEASE IV
GLYCOGEN STORAGE DISEASE IXA1
GLYCOGEN STORAGE DISEASE TYPE II
GLYCOGEN STORAGE DISEASE TYPE III
GLYCOGEN STORAGE DISEASE TYPE IV
GLYCOGEN STORAGE DISEASE TYPE V
GLYCOGEN STORAGE DISEASE TYPE VII
GLYCOGEN STORAGE DISEASE V
GLYCOGEN STORAGE DISEASE VI
GLYCOGEN STORAGE DISEASE VII
GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED)
GLYCOGEN STORAGE DISEASE VIII, FORMERLY
GLYCOGEN STORAGE DISEASE, TYPE I
GLYCOGEN STORAGE DISEASE, TYPE II
GLYCOGEN STORAGE DISEASE, TYPE III
GLYCOGEN STORAGE DISEASE, TYPE IV
GLYCOGEN STORAGE DISEASE, TYPE V
GLYCOGEN STORAGE DISEASE, TYPE VII
GLYCOGENOSIS IV
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
GLYCOGENOSIS, TYPE 4
GLYCOGENOSIS, TYPE 5
GSD I
GSD IA
GSD II
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GSD IIIB
GSD IIIC
GSD IIID
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GSD IXA1
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GSD VI
GSD VII
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GSD1
GSD1A
GSD2
GSD3
GSD4
GSD5
GSD6
GSD7
GSD8, FORMERLY
GSD9A1
GSD9A2
GSS
GSS - GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME
HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE
HEPATORENAL GLYCOGEN STORAGE DISEASE
HEPATORENAL GLYCOGENOSIS
HERS DISEASE
LIMIT DEXTRIN - GLYCOGEN
LIMIT DEXTRINOSIS
LIVER GLYCOGEN DISEASE
LIVER GLYCOGENOSIS, X-LINKED, TYPE I
LYSOSOMAL ALPHA-1,4-GLUCOSIDASE DEFICIENCY
MCARDLE DISEASE
MCARDLE'S DISEASE
MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
MYOPHOSPHORYLASE DEFICIENCY
MYOPHOSPHORYLASE DEFICIENCY GLYCOGENOSIS
PFK - MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
PFKM DEFICIENCY
PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER
POMPE DISEASE
POMPE'S DISEASE
PRION DEMENTIA
PYGM DEFICIENCY
TARUI DISEASE
TARUI'S DISEASE
TAURI DISEASE
VON GIERKE DISEASE
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Repository:
AREDS2
(1988)
NIGMS Human Genetic Cell Repository
(198)
NIA Aging Cell Culture Repository
(2)
Collection:
Heritable Diseases
(200)
Lysosomal Storage Diseases
(114)
GeT-RM Samples
(8)
Chromosome Abnormalities
(1)
Product:
DNA
(2055)
LCL
(86)
Fibroblast
(45)
iPSC
(2)
Affected:
Yes
(2101)
No
(80)
Mutation Data Available:
N
(2085)
Y
(103)
Source:
Whole Blood
(279)
B-Lymphocyte
(86)
LCL
(40)
Fibroblast
(29)
Skin, Unspecified
(8)
Skin, Thigh
(4)
Liver, Liver
(1)
Skin, Arm
(1)
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Female
(1248)
Male
(939)
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White
(2088)
Black/African American
(42)
Asian
(21)
Other
(19)
Native Hawaiian/Other Pacific Islander
(2)
Asiatic Indian
(1)
dbGap Data Available:
Yes
(1988)
No
(200)
Extended Clinical Data Available:
No
(2188)
Age at Sampling (Years):
75-89
(831)
65-74
(789)
55-64
(342)
0-4
(64)
45-54
(58)
25-34
(29)
35-44
(25)
15-24
(23)
5-14
(16)
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