JIMD Reports

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Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
JIMD Reports - Tập 46 Số 1 - Trang 4-10 - 2019
Karolina M. Stępień, Wolfgang M. Schmidt, Reginald E. Bittner, Orna O’Toole, Brian McNamara, Eileen P. Treacy
AbstractLipin‐1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has only recently been recognized so little is known about the long‐term outcome in adult patients ... hiện toàn bộ
Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels
JIMD Reports - Tập 46 Số 1 - Trang 70-74 - 2019
Anne Clark, Christine Merrigan, Ellen Crushell, Joanne Hughes, Ina Knerr, AA Monavari, Eileen P. Treacy, Aoife Coughlan
AbstractPhenylketonuria (PKU) is an inherited metabolic disorder affecting phenylalanine metabolism. The Irish incidence is 1:4500. Currently, there are 500 patients under the care of the National Centre for Inherited Metabolic Disorders in Temple Street Children's University Hospital. Current practice is to admit PKU patients with phenylalanine (phe) levels that are consistently out of range desp... hiện toàn bộ
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