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Search Results for -
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
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Also searched for:
HUMAN TRIFUNCTIONAL PROTEIN DEFICIENCY
LCHAD - LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
LCHAD DEFICIENCY
LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
TRIFUNCTIONAL ENZYME DEFICIENCY
TRIFUNCTIONAL PROTEIN DEFICIENCY
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Repository:
NIGMS Human Genetic Cell Repository
(10949)
NINDS Repository
(7300)
NHGRI Sample Repository for Human Genetic Research
(3709)
NIA Aging Cell Culture Repository
(2192)
Autism
(146)
HD Community Biorepository
(39)
Centers for Disease Control and Prevention Repository
(10)
Orphan Disease Center
(4)
Allen Cell Collection
(3)
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Heritable Diseases
(7417)
NHGRI Sample Repository for Human Genetic Research
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Cerebrovascular Disease
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Chromosome Abnormalities
(1835)
Epilepsy
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Parkinsonism
(1489)
Human Variation
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Tourette Syndrome
(884)
PIGI Consented Sample
(866)
Apparently Healthy Collection
(826)
CEPH
(792)
dbGaP
(789)
Lysosomal Storage Diseases
(676)
Motor Neuron Disease
(623)
Old Order Amish Major Affective Disorder
(413)
Repository Linkage Families
(401)
GRC
(383)
Muscular Dystrophies
(354)
University of Georgia Centenarian Study
(320)
GeT-RM Samples
(314)
Control
(292)
Dystonia
(230)
Animals
(228)
Canadian Alzheimer Disease
(226)
Disorders of the Urea Cycle
(225)
Hybrids
(224)
Hereditary Cancers
(215)
Venezuelan Huntington Disease
(176)
Alzheimer's Disease
(175)
Pharmacogenetics
(175)
CMD Specific
(172)
The 90+ Study
(159)
Maturity-Onset Diabetes of the Young
(121)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(108)
Retinitis Pigmentosa Foundation Collection
(72)
Italian Alzheimer Disease
(60)
FOXG1
(57)
German Alzheimer Disease
(50)
Nonhuman Primates
(48)
Whole-Genome Sequence
(46)
DGAP
(44)
Aged Sib Pairs
(41)
Ames Dwarf Mice
(28)
Stem Cell Collection
(18)
Alzheimer Disease With No Family History
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Non-Healing Wound Collection
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Gene-Edited hiPSC
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Engineered Cell Cultures
(5)
Specially Characterized Fibroblasts
(3)
Apparently healthy iPSCs
(2)
Frontotemporal Degeneration
(2)
Prostate Cancer
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Product:
DNA
(11063)
LCL
(9678)
Fibroblast
(3179)
Somatic cell hybrid
(118)
iPSC
(86)
Smooth muscle
(41)
Plasmid
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High Molecular Weight DNA
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Amniotic fluid-derived cell line
(27)
Endothelial
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mESC
(18)
Adipose stromal cell
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Epithelial
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Tumor-derived cell line
(7)
Chorionic villus-derived cell line
(4)
Neuronally-derived
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Hybridoma
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Mesothelial
(2)
Antibodies
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Microcell hybrid
(1)
Myeloma
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(9495)
No
(4542)
At Risk
(3082)
Unknown
(1841)
Mutation Data Available:
N
(20494)
Y
(3857)
No
(1)
Source:
B-Lymphocyte
(9710)
LCL
(7025)
Whole Blood
(2959)
Fibroblast
(1020)
Skin, Arm
(611)
Skin, Unspecified
(308)
Skin, Skin
(165)
Somatic cell hybrid
(105)
Lung, Lung
(61)
Skin, Thigh
(41)
Aorta, thoracic
(37)
Skin, Ear
(33)
Amniotic fluid
(27)
Skin, Abdomen
(21)
Skin, Foreskin
(15)
Blood
(13)
Amniotic fluid-derived cell line
(12)
Trachealis muscle
(12)
Skin, Leg
(8)
Umbilical Cord, Umbilical cord
(8)
Artery, iliac
(7)
Gonad, Gonad
(7)
Skin, Posterior iliac crest
(7)
Fetal, Unspecified
(6)
Skin, Thorax
(6)
Muscle, Unspecified
(5)
Skin, Back
(5)
Skin, Buttock
(5)
Brain striatum
(4)
Chorionic villus
(4)
Conjunctiva, Conjunctiva
(4)
Embryonal carcinoma
(4)
Skin, Right ischium
(4)
Skin, Sacrum
(4)
Whole embryo, Embryo
(4)
Artery, pulmonary
(3)
Breast organoid
(3)
Chorionic villus-derived cell line
(3)
Epithelial
(3)
Gingival, Gum
(3)
Gonad, Testes
(3)
Leiomyoma
(3)
Liver, Liver
(3)
Placental, Placenta
(3)
Retina of eye
(3)
Skin, Genital area
(3)
Skin, Hip
(3)
Skin, Inguinal area
(3)
Smooth muscle
(3)
Stem cell
(3)
Vein, iliac
(3)
Eye
(2)
Gonad, Ovary
(2)
Heart, Pericardium
(2)
Skin, Buttock-thigh
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Thorax/abdomen
(2)
Spleen, Keloid
(2)
Tumor, Fibroma
(2)
Umbilical Cord, Vein, umbilical
(2)
Amnion, Amnion
(1)
Aortic arch
(1)
Artery, Aorta, thoracic
(1)
Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Cornea, Cornea
(1)
Ewing sarcoma
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Lung
(1)
Mesothelial
(1)
Neuroepithelioma
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Peripheral Vein
(1)
Skin, Embryo
(1)
Skin, Fetal
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Skin, Flank
(1)
Skin, Foot
(1)
Skin, Labialscrotal fold
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Skin, Neck
(1)
Skin, Sacral area
(1)
Skin, Scalp
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Skin, Scrotum
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Skin, Shoulder
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Skin, Toe
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Skin, Umbilical area
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T-Lymphocyte
(1)
Tendon, Leg
(1)
Tumor, Neurofibroma
(1)
Tumor-derived cell line
(1)
Uterine muscle, Uterus
(1)
Vein, umbilical
(1)
Sex:
Female
(12341)
Male
(11632)
Other
(8)
Race:
White
(14990)
Black/African American
(1008)
More than one race
(435)
Asian
(350)
Hispanic/Latino
(235)
Other
(220)
Asiatic Indian
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Unknown
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Caucasian
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Chinese
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American Indian/Alaska Native
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Not Reported
(36)
East Indian
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Asian, Other
(20)
Native Hawaiian/Other Pacific Islander
(18)
Filipino
(7)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(22778)
Yes
(1574)
Extended Clinical Data Available:
No
(16592)
Yes
(7760)
Age at Sampling (Years):
35-44
(2846)
45-54
(2680)
25-34
(2294)
0-4
(2178)
55-64
(2123)
5-14
(2024)
15-24
(1936)
65-74
(1346)
75-89
(809)
90-99
(290)
100+
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