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Search Results for -
CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN
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Also searched for:
1,4,ALPHA-GLUCAN 6-ALPHA-GLUCOSYLTRANSFERASE DEFICIENCY
AMYLOPECTINOSIS
ANDERSEN DISEASE
ANDERSEN'S DISEASE
BRANCHER DEFICIENCY
BRANCHER DEFICIENCY GLYCOGEN STORAGE DISEASE
BRANCHING ENZYME DEFICIENCY
BRANCHING-TRANSFERASE DEFICIENCY GLYCOGENOSIS
DEFICIENCY OF 1,4-ALPHA-GLUCAN BRANCHING ENZYME
DEFICIENCY OF AMYLO-(1,4,6)-TRANSGLYCOSYLASE
DEFICIENCY OF BRANCHING ENZYME
GBE1 DEFICIENCY
GLYCOGEN BRANCHING ENZYME DEFICIENCY
GLYCOGEN STORAGE DISEASE IV
GLYCOGEN STORAGE DISEASE TYPE IV
GLYCOGEN STORAGE DISEASE, TYPE IV
GLYCOGENOSIS IV
GLYCOGENOSIS, TYPE 4
GSD IV
GSD4
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Repository:
NINDS Repository
(29605)
NIGMS Human Genetic Cell Repository
(18068)
NHGRI Sample Repository for Human Genetic Research
(7491)
NIA Aging Cell Culture Repository
(4308)
Autism
(362)
HD Community Biorepository
(191)
Centers for Disease Control and Prevention Repository
(24)
Orphan Disease Center
(8)
Allen Cell Collection
(4)
Collection:
Heritable Diseases
(11531)
Cerebrovascular Disease
(8687)
NHGRI Sample Repository for Human Genetic Research
(7491)
Parkinsonism
(6721)
Control
(6402)
Motor Neuron Disease
(5133)
Epilepsy
(3444)
Chromosome Abnormalities
(2883)
Human Variation
(1924)
Apparently Healthy Collection
(1629)
CEPH
(1616)
dbGaP
(1328)
PIGI Consented Sample
(1267)
Old Order Amish Major Affective Disorder
(1006)
University of Georgia Centenarian Study
(855)
Repository Linkage Families
(816)
GRC
(782)
Lysosomal Storage Diseases
(747)
Tourette Syndrome
(637)
Hybrids
(558)
Muscular Dystrophies
(544)
GeT-RM Samples
(512)
Animals
(504)
Hereditary Cancers
(385)
Pharmacogenetics
(334)
The 90+ Study
(331)
CMD Specific
(268)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Venezuelan Huntington Disease
(251)
Alzheimer's Disease
(250)
Dystonia
(235)
Canadian Alzheimer Disease
(226)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(121)
Nonhuman Primates
(113)
German Alzheimer Disease
(101)
FOXG1
(90)
Stem Cell Collection
(87)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(52)
Ames Dwarf Mice
(47)
Alzheimer Disease With No Family History
(31)
Apparently healthy iPSCs
(19)
Non-Healing Wound Collection
(17)
Engineered Cell Cultures
(15)
Gene-Edited hiPSC
(13)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(4)
Prostate Cancer
(3)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(28142)
LCL
(25926)
Fibroblast
(4826)
Somatic cell hybrid
(322)
Plasmid
(165)
iPSC
(160)
mESC
(87)
96 well plate of DNA samples
(61)
Smooth muscle
(61)
High Molecular Weight DNA
(59)
human variation panel
(49)
Endothelial
(47)
Adipose stromal cell
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Preprocessed DNA
(20)
Amniotic fluid-derived cell line
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Epithelial
(15)
Tumor-derived cell line
(15)
Neuronally-derived
(13)
Antibodies
(11)
Hybridoma
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Myeloma
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aging mapping panel
(6)
Chorionic villus-derived cell line
(4)
Mesothelial
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Erythroleukemic cell line
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Kidney-derived cell line
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Antigen
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Cytoplasmic transfer (cybrid)
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FFPE
(1)
Keratinocyte
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Microcell hybrid
(1)
Protein
(1)
gene mutation panel
(1)
Affected:
Yes
(28807)
No
(14483)
Unknown
(3164)
At Risk
(2850)
Mutation Data Available:
N
(54018)
Y
(5926)
No
(117)
Source:
B-Lymphocyte
(25986)
LCL
(21578)
Whole Blood
(4908)
Fibroblast
(1528)
Skin, Arm
(1075)
Skin, Unspecified
(491)
Somatic cell hybrid
(236)
Skin, Skin
(229)
Lung, Lung
(106)
Skin, Thigh
(67)
Skin, Ear
(65)
Skin, Foreskin
(58)
Aorta, thoracic
(57)
Skin, Abdomen
(32)
Amniotic fluid
(19)
Blood
(16)
Brain striatum
(13)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Vein, iliac
(11)
Gonad, Gonad
(10)
Skin, Buttock
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Umbilical Cord, Umbilical cord
(9)
Amniotic fluid-derived cell line
(8)
Skin, Back
(8)
Skin, Buttock-thigh
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Stem cell
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Skin, Hip
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Retina of eye
(5)
Skin, Fetal
(5)
Skin, Right ischium
(5)
Chorionic villus
(4)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Gonad, Testes
(4)
Chorionic villus-derived cell line
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Labialscrotal fold
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Umbilical area
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Tumor-derived cell line
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Sex:
Female
(30523)
Male
(28409)
Other
(26)
Race:
White
(39799)
Black/African American
(3529)
Asian
(840)
More than one race
(709)
Other
(634)
Unknown
(453)
Hispanic/Latino
(337)
Caucasian
(316)
Asiatic Indian
(252)
Chinese
(218)
American Indian/Alaska Native
(142)
Native Hawaiian/Other Pacific Islander
(79)
East Indian
(62)
Not Reported
(46)
Asian, Other
(29)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(52068)
Yes
(7993)
Extended Clinical Data Available:
Yes
(30338)
No
(29723)
Age at Sampling (Years):
45-54
(7784)
55-64
(7756)
35-44
(6192)
65-74
(6010)
25-34
(4796)
5-14
(4171)
15-24
(3768)
0-4
(3557)
75-89
(3387)
90-99
(647)
100+
(237)
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