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Search Results for -
GLYCOGEN STORAGE DISEASE, TYPE II
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ACID ALPHA-GLUCOSIDASE DEFICIENCY
ACID MALTASE DEFICIENCY
ALPHA-1,4-GLUCOSIDASE DEFICIENCY
ALPHA-GLUCOSIDASE DEFICIENCY
AMD
AMD - ACID MALTASE DEFICIENCY
CARDIOMEGALIA GLYCOGENICA DIFFUSA
DEFICIENCY OF ACID MALTASE
DEFICIENCY OF ALPHA-GLUCOSIDASE
DEFICIENCY OF AMYLOGLUCOSIDASE
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 GLUCOSIDOSUCRASE
DEFICIENCY OF MALTASE
GAA DEFICIENCY
GENERALIZED GLYCOGENOSIS
GLYCOGEN STORAGE DISEASE II
GLYCOGEN STORAGE DISEASE TYPE II
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
GSD II
GSD2
LYSOSOMAL ALPHA-1,4-GLUCOSIDASE DEFICIENCY
POMPE DISEASE
POMPE'S DISEASE
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Repository:
NINDS Repository
(26618)
NIGMS Human Genetic Cell Repository
(5931)
AREDS2
(1988)
NIA Aging Cell Culture Repository
(1257)
HD Community Biorepository
(91)
Centers for Disease Control and Prevention Repository
(27)
Orphan Disease Center
(15)
Allen Cell Collection
(11)
Autism
(2)
Collection:
Cerebrovascular Disease
(13925)
Parkinsonism
(6952)
Heritable Diseases
(5691)
Motor Neuron Disease
(5555)
Control
(937)
Lysosomal Storage Diseases
(765)
Apparently Healthy Collection
(430)
Muscular Dystrophies
(362)
PIGI Consented Sample
(342)
Chromosome Abnormalities
(296)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(252)
Venezuelan Huntington Disease
(250)
Dystonia
(247)
GeT-RM Samples
(228)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Old Order Amish Major Affective Disorder
(212)
CEPH
(201)
Hereditary Cancers
(184)
CMD Specific
(138)
Italian Alzheimer Disease
(121)
dbGaP
(121)
German Alzheimer Disease
(101)
Repository Linkage Families
(91)
Alzheimer Disease With No Family History
(31)
Disorders of the Urea Cycle
(18)
Pharmacogenetics
(16)
Epilepsy
(12)
Whole-Genome Sequence
(11)
Animals
(9)
DGAP
(7)
Cardiomyopathy
(6)
Frontotemporal Degeneration
(6)
Specially Characterized Fibroblasts
(6)
GRC
(5)
Gene-Edited hiPSC
(5)
Engineered Cell Cultures
(4)
Human Variation
(4)
Non-Healing Wound Collection
(4)
Aged Sib Pairs
(3)
Apparently healthy iPSCs
(3)
FOXG1
(2)
Laminopathy
(1)
Skeletal Myopathy
(1)
Product:
DNA
(23024)
LCL
(10724)
Fibroblast
(1916)
iPSC
(90)
Plasmid
(79)
96 well plate of DNA samples
(33)
Preprocessed DNA
(20)
High Molecular Weight DNA
(15)
Neuronally-derived
(12)
Collection of iPSC
(8)
Amniotic fluid-derived cell line
(6)
Epithelial
(4)
Tumor-derived cell line
(3)
Antibodies
(2)
aging mapping panel
(2)
Chorionic villus-derived cell line
(1)
Microcell hybrid
(1)
Affected:
Yes
(30302)
No
(2709)
At Risk
(1553)
Unknown
(63)
Mutation Data Available:
N
(32604)
Y
(3293)
No
(43)
Source:
Whole Blood
(11832)
B-Lymphocyte
(10738)
LCL
(8966)
Fibroblast
(595)
Skin, Arm
(269)
Skin, Unspecified
(255)
Skin, Skin
(83)
Lung, Lung
(33)
Skin, Thigh
(32)
Brain striatum
(12)
Skin, Posterior iliac crest
(9)
Amniotic fluid
(6)
Stem cell
(5)
Amniotic fluid-derived cell line
(4)
Breast organoid
(3)
Conjunctiva, Conjunctiva
(3)
Liver, Liver
(3)
Skin, Back
(3)
Skin, Buttock
(3)
Umbilical Cord, Umbilical cord
(3)
Muscle, Unspecified
(2)
Skin, Abdomen
(2)
Skin, Foreskin
(2)
Skin, Labialscrotal fold
(2)
Skin, Leg
(2)
Spleen, Keloid
(2)
Amnion, Amnion
(1)
Blood
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Chest
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Epithelial
(1)
Eye
(1)
Fetal, Unspecified
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Kidney, Kidney
(1)
Lens, Eye
(1)
Placental, Placenta
(1)
Skin, Buttock-thigh
(1)
Skin, Calf
(1)
Skin, Fetal
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Sacrum
(1)
Skin, Scalp
(1)
Skin, Thorax
(1)
Skin, Toe
(1)
Tumor
(1)
Tumor, Adenoma
(1)
Tumor, Neurofibroma
(1)
Tumor-derived cell line
(1)
Umbilical Cord, Vein, umbilical
(1)
Sex:
Male
(17860)
Female
(17844)
Other
(9)
Race:
White
(29845)
Black/African American
(3257)
Asian
(524)
Other
(453)
More than one race
(308)
Unknown
(203)
American Indian/Alaska Native
(148)
Native Hawaiian/Other Pacific Islander
(55)
Not Reported
(39)
Hispanic/Latino
(31)
Asiatic Indian
(12)
Asian, Other
(8)
East Indian
(7)
Caucasian
(6)
Korean
(5)
Japanese
(3)
Filipino
(2)
Chinese
(1)
Vietnamese
(1)
dbGap Data Available:
No
(28956)
Yes
(6984)
Extended Clinical Data Available:
Yes
(26796)
No
(9144)
Age at Sampling (Years):
55-64
(7834)
65-74
(7048)
45-54
(6309)
75-89
(4609)
35-44
(3368)
25-34
(1787)
5-14
(1332)
15-24
(1301)
0-4
(877)
90-99
(171)
100+
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