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Search Results for -
GLYCOGEN STORAGE DISEASE, TYPE VII
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Also searched for:
GLYCOGEN STORAGE DISEASE TYPE VII
GLYCOGEN STORAGE DISEASE VII
GSD VII
GSD7
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
PFK - MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
PFKM DEFICIENCY
TARUI DISEASE
TARUI'S DISEASE
TAURI DISEASE
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Repository:
NINDS Repository
(26627)
NIGMS Human Genetic Cell Repository
(5517)
NIA Aging Cell Culture Repository
(1256)
HD Community Biorepository
(76)
Centers for Disease Control and Prevention Repository
(27)
Orphan Disease Center
(15)
Allen Cell Collection
(10)
Autism
(2)
Collection:
Cerebrovascular Disease
(13934)
Parkinsonism
(6952)
Motor Neuron Disease
(5555)
Heritable Diseases
(5466)
Control
(937)
Lysosomal Storage Diseases
(765)
Apparently Healthy Collection
(430)
Muscular Dystrophies
(369)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(252)
Venezuelan Huntington Disease
(251)
Dystonia
(247)
PIGI Consented Sample
(239)
Chromosome Abnormalities
(232)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Old Order Amish Major Affective Disorder
(212)
Hereditary Cancers
(169)
GeT-RM Samples
(161)
CMD Specific
(147)
Italian Alzheimer Disease
(121)
dbGaP
(110)
German Alzheimer Disease
(101)
Alzheimer Disease With No Family History
(31)
Disorders of the Urea Cycle
(17)
CEPH
(15)
Epilepsy
(12)
Pharmacogenetics
(11)
Whole-Genome Sequence
(11)
Animals
(9)
Gene-Edited hiPSC
(7)
Cardiomyopathy
(6)
Frontotemporal Degeneration
(6)
Specially Characterized Fibroblasts
(6)
DGAP
(5)
GRC
(5)
Engineered Cell Cultures
(4)
Human Variation
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Non-Healing Wound Collection
(4)
Aged Sib Pairs
(3)
Apparently healthy iPSCs
(3)
FOXG1
(2)
Laminopathy
(1)
Skeletal Myopathy
(1)
Product:
DNA
(20865)
LCL
(10533)
Fibroblast
(1875)
iPSC
(89)
Plasmid
(64)
96 well plate of DNA samples
(33)
Preprocessed DNA
(20)
High Molecular Weight DNA
(13)
Neuronally-derived
(12)
Collection of iPSC
(8)
Amniotic fluid-derived cell line
(6)
Epithelial
(4)
Antibodies
(2)
Tumor-derived cell line
(2)
aging mapping panel
(2)
Chorionic villus-derived cell line
(1)
Microcell hybrid
(1)
Affected:
Yes
(28204)
No
(2630)
At Risk
(1552)
Unknown
(57)
Mutation Data Available:
N
(30372)
Y
(3115)
No
(43)
Source:
Whole Blood
(11562)
B-Lymphocyte
(10547)
LCL
(8795)
Fibroblast
(582)
Skin, Arm
(271)
Skin, Unspecified
(250)
Skin, Skin
(82)
Lung, Lung
(33)
Skin, Thigh
(30)
Brain striatum
(12)
Skin, Posterior iliac crest
(9)
Amniotic fluid
(6)
Amniotic fluid-derived cell line
(4)
Stem cell
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Blood
(3)
Breast organoid
(3)
Liver, Liver
(3)
Skin, Buttock
(3)
Umbilical Cord, Umbilical cord
(3)
Muscle, Unspecified
(2)
Skin, Abdomen
(2)
Skin, Back
(2)
Skin, Foreskin
(2)
Skin, Leg
(2)
Spleen, Keloid
(2)
Amnion, Amnion
(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
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Eye
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Fetal, Unspecified
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Kidney, Kidney
(1)
Lens, Eye
(1)
Placental, Placenta
(1)
Skin, Calf
(1)
Skin, Fetal
(1)
Skin, Flank
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(1)
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(1)
Skin, Scalp
(1)
Skin, Thorax
(1)
Skin, Toe
(1)
Tumor, Adenoma
(1)
Tumor, Neurofibroma
(1)
Tumor-derived cell line
(1)
Umbilical Cord, Vein, umbilical
(1)
Sex:
Male
(16898)
Female
(16413)
Other
(9)
Race:
White
(27548)
Black/African American
(3231)
Asian
(504)
Other
(438)
More than one race
(297)
Unknown
(203)
American Indian/Alaska Native
(149)
Native Hawaiian/Other Pacific Islander
(53)
Not Reported
(42)
Hispanic/Latino
(27)
Asiatic Indian
(12)
Asian, Other
(7)
East Indian
(7)
Caucasian
(6)
Korean
(5)
Japanese
(3)
Filipino
(2)
Chinese
(1)
Vietnamese
(1)
dbGap Data Available:
No
(28534)
Yes
(4996)
Extended Clinical Data Available:
Yes
(26801)
No
(6729)
Age at Sampling (Years):
55-64
(7499)
65-74
(6261)
45-54
(6255)
75-89
(3784)
35-44
(3354)
25-34
(1775)
15-24
(1277)
5-14
(1255)
0-4
(824)
90-99
(171)
100+
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