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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal recessive 72"
Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039.
Brain. 2023.
PMID: 36757831
Free PMC article.
Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. ...I …
Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to co …
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP.
Chuang CK, et al.
Int J Mol Sci. 2022 Sep 1;23(17):9979. doi: 10.3390/ijms23179979.
Int J Mol Sci. 2022.
PMID: 36077388
Free PMC article.
Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other types of MPS have autosoma …
Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activi …
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