1. Trang chủ
  2. » Kinh Tế - Quản Lý

Pediatric emergency medicine trisk 2425 2425

1 4 0

Đang tải... (xem toàn văn)

THÔNG TIN TÀI LIỆU

Thông tin cơ bản

Định dạng
Số trang 1
Dung lượng 101,89 KB

Nội dung

Aminoacidopathies Alkaptonuria Cystinuria types I–III Hartnup disease Hawkinsinuria Histidinemia Homocystinuria types Ia, Ib, II Nonketotic hyperglycinemia Phenylketonuria Tyrosinemia types I–III Organic acidemias b 3-Hydroxy-3-methylglutaric aciduria 3-Methylcrotonylglycinuria 3-Methylglutaconic aciduria types I–IV Biotinidase deficiency Glutaric acidemia type I Holocarboxylase synthetase deficiency Hydroxyglutaric aciduria Isovaleric acidemia Maple syrup urine disease Methylmalonic acidemia Propionic acidemia types I, II β-Ketothiolase deficiency Urea cycle defects and disorders of ammonia detoxification Urea cycle defects Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase deficiency Citrullinemia N-acetyl glutamate synthetase deficiency Ornithine transcarbamylase deficiency Hepatic amino acid transport Homocitrullinuria, hyperornithinemia, and hyperammonemia (HHH) syndrome Lysinuric protein intolerance Fatty acid oxidation defects Carnitine palmitoyltransferase deficiency types I, II Carnitine transporter deficiency Carnitine-acylcarnitine translocase deficiency Hydroxymethylglutaryl-CoA (HMG-CoA) lyase deficiency, HMG-CoA synthetase deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency Medium-chain 3-ketoacyl thiolase (MCKAT) deficiency Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency Short-chain acyl-CoA dehydrogenase (SCAD) deficiency Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

Ngày đăng: 22/10/2022, 13:25

TÀI LIỆU CÙNG NGƯỜI DÙNG

  • Đang cập nhật ...

TÀI LIỆU LIÊN QUAN