JIMD Reports
ESCI-ISI SCOPUS (2012-2025)
2192-8304
2192-8312
Đức
Cơ quản chủ quản: Springer Berlin
Lĩnh vực:
Internal MedicineBiochemistry, Genetics and Molecular Biology (miscellaneous)Endocrinology, Diabetes and Metabolism
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Các bài báo tiêu biểu
Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
Tập 46 Số 1 - Trang 4-10 - 2019
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 ...
Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels
Tập 46 Số 1 - Trang 70-74 - 2019
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...