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Search Results for -
SANFILIPPO SYNDROME, TYPE C
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Also searched for:
ACETYL-COA ALPHA-GLUCOSAMINIDE ACETYLTRANSFERASE DEFICIENCY
ACETYL-COA: HEPARAN-ALPHA-D-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
ACETYL-COA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
HEPARAN-ALPHA-GLUCOSAMINIDE ACETYLTRANSFERASE DEFICIENCY
MPS IIIC
MPS III-C - MUCOPOLYSACCHARIDOSIS III-C
MPS3C
MPSIIIC - MUCOPOLYSACCHARIDOSIS TYPE IIIC
MUCOPOLYSACCHARIDOSIS III-C
MUCOPOLYSACCHARIDOSIS TYPE IIIC
MUCOPOLYSACCHARIDOSIS, MPS-III-C
N-ACETYL TRANSFERASE DEFICIENCY
SANFILIPPO SYNDROME C
19399 results -
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Repository:
NINDS Repository
(10559)
NIGMS Human Genetic Cell Repository
(8080)
NIA Aging Cell Culture Repository
(670)
Allen Cell Collection
(31)
HD Community Biorepository
(24)
Centers for Disease Control and Prevention Repository
(17)
Orphan Disease Center
(10)
Autism
(8)
Collection:
Heritable Diseases
(7516)
Tourette Syndrome
(4382)
Motor Neuron Disease
(3869)
Cerebrovascular Disease
(1530)
Chromosome Abnormalities
(1422)
PIGI Consented Sample
(892)
Lysosomal Storage Diseases
(605)
Parkinsonism
(489)
Muscular Dystrophies
(417)
dbGaP
(332)
Hereditary Cancers
(327)
Dystonia
(284)
GeT-RM Samples
(272)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Old Order Amish Major Affective Disorder
(214)
CMD Specific
(198)
Retinitis Pigmentosa Foundation Collection
(112)
Apparently Healthy Collection
(108)
FOXG1
(90)
Hybrids
(89)
Disorders of the Urea Cycle
(85)
Pharmacogenetics
(46)
Human Variation
(35)
CEPH
(31)
Repository Linkage Families
(16)
Animals
(14)
Alzheimer's Disease
(13)
DGAP
(12)
Whole-Genome Sequence
(12)
Gene-Edited hiPSC
(11)
Epilepsy
(7)
Apparently healthy iPSCs
(6)
Specially Characterized Fibroblasts
(6)
Engineered Cell Cultures
(5)
Control
(2)
Non-Healing Wound Collection
(2)
Nonhuman Primates
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Alzheimer Disease With No Family History
(1)
Product:
DNA
(10928)
LCL
(5930)
Fibroblast
(2234)
iPSC
(167)
Somatic cell hybrid
(71)
High Molecular Weight DNA
(19)
Amniotic fluid-derived cell line
(14)
Plasmid
(14)
Protein
(4)
Antibodies
(3)
Myeloma
(3)
Neuronally-derived
(3)
Smooth muscle
(2)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
Hybridoma
(1)
Keratinocyte
(1)
Microcell hybrid
(1)
Tumor-derived cell line
(1)
aging mapping panel
(1)
Affected:
Yes
(15060)
No
(1865)
At Risk
(1253)
Unknown
(103)
Mutation Data Available:
N
(15516)
Y
(3882)
No
(1)
Source:
Whole Blood
(6473)
B-Lymphocyte
(5951)
LCL
(3813)
Fibroblast
(724)
Skin, Unspecified
(321)
Skin, Arm
(242)
Skin, Skin
(190)
Skin, Thigh
(43)
Lung, Lung
(34)
Stem cell
(32)
Blood
(24)
Somatic cell hybrid
(18)
Amniotic fluid
(14)
Skin, Posterior iliac crest
(9)
Skin, Back
(8)
Skin, Thorax
(8)
Amniotic fluid-derived cell line
(6)
Skin, Buttock
(4)
Skin, Hip
(4)
Skin, Leg
(4)
Umbilical Cord, Umbilical cord
(4)
Brain striatum
(3)
Fetal, Unspecified
(3)
Kidney, Kidney
(3)
Liver, Liver
(3)
Muscle, Unspecified
(3)
Placental, Placenta
(3)
Skin, Genital area
(3)
Skin, Thorax/abdomen
(3)
Gonad, Gonad
(2)
Leiomyoma
(2)
Skin, Abdomen
(2)
Skin, Fetal
(2)
Skin, Labialscrotal fold
(2)
Smooth muscle
(2)
Amnion, Amnion
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Fetal, Arm
(1)
Gingival, Gum
(1)
Gonad, Ovary
(1)
Gonad, Testes
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Skin, Axilla
(1)
Skin, Buttock-thigh
(1)
Skin, Calf
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Foreskin
(1)
Skin, Sacrum
(1)
Spleen, Keloid
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Tumor, Neurofibroma
(1)
Umbilical Cord, Vein, umbilical
(1)
Sex:
Male
(10359)
Female
(8855)
Other
(8)
Race:
White
(15951)
Black/African American
(623)
More than one race
(410)
Asian
(302)
Other
(256)
Unknown
(92)
Hispanic/Latino
(81)
American Indian/Alaska Native
(49)
East Indian
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Not Reported
(32)
Asiatic Indian
(23)
Asian, Other
(18)
Native Hawaiian/Other Pacific Islander
(13)
Caucasian
(11)
Chinese
(6)
Filipino
(6)
Korean
(5)
Japanese
(3)
Vietnamese
(1)
dbGap Data Available:
No
(15709)
Yes
(3690)
Extended Clinical Data Available:
Yes
(10950)
No
(8449)
Age at Sampling (Years):
5-14
(3061)
45-54
(2551)
35-44
(2510)
55-64
(2343)
15-24
(2087)
25-34
(1896)
65-74
(1723)
0-4
(1342)
75-89
(725)
90-99
(16)
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