Unknown

Dataset Information

0

Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.

ABSTRACT:

SUBMITTER: Stockdale C 

PROVIDER: S-EPMC7937547 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.

Stockdale Claire C   Rice Laura L   Carter Clive C   Berry Ian I   Poulter James J   O'Riordan Sean S   Pollard Sally S   Anwar Rashida R   Tooze Reuben R   Savic Sinisa S  

Journal of clinical immunology 20210308 5

Similar Datasets

Unknown Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
| S-EPMC4463807 | biostudies-literature
Unknown Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.
| S-EPMC10772193 | biostudies-literature
Unknown Hybrid molecular structure of the giant protease tripeptidyl peptidase II.
| S-EPMC2939011 | biostudies-literature
Unknown Tripeptidyl Peptidase II Mediates Levels of Nuclear Phosphorylated ERK1 and ERK2.
| S-EPMC4528246 | biostudies-literature
Unknown A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
| S-EPMC9790788 | biostudies-literature
Unknown Mild phenotype of <i>CHAT</i>-associated congenital myasthenic syndrome: case series.
| S-EPMC10830679 | biostudies-literature
Unknown Tripeptidyl Peptidase 1 Regulates Human Trophoblast Cell Proliferation Implying a Role in Placentation.
| S-EPMC9485709 | biostudies-literature
Unknown Lysosomal protein thermal stability does not correlate with cellular half-life: global observations and a case study of tripeptidyl-peptidase 1.
| S-EPMC8442665 | biostudies-literature
Unknown A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
| S-EPMC4329776 | biostudies-literature
Unknown Tripeptidyl peptidase II promotes maturation of caspase-1 in Shigella flexneri-induced macrophage apoptosis.
| S-EPMC101498 | biostudies-literature