pyruvate dehydrogenase complex deficiency disease/tyrosine

Tautan disimpan ke clipboard

ArtikelUji klinisPaten

Pilih jenis pengurutan

4 hasil

A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical and molecular analysis in a female patient

Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Congenital deficiencies of the human pyruvate dehydrogenase (PDH) complex are considered to be due to loss of function mutations in one of the component enzymes. Here we describe a case of PDH deficiency associated with the PDH E1beta subunit (PDHB) gene. The clinical phenotype of the patient was

An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

We evaluated the feasibility of self-complementary adeno-associated virus (scAAV) vector-mediated knockdown of the pyruvate dehydrogenase complex using small interfering RNAs directed against the E1α subunit gene (PDHA1). AAV serotype 8 was used to stereotaxically deliver scAAV8-si3-PDHA1-Enhanced

Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

OBJECTIVE Open-label studies indicate that oral dichloroacetate (DCA) may be effective in treating patients with congenital lactic acidosis. We tested this hypothesis by conducting the first double-blind, randomized, control trial of DCA in this disease. METHODS Forty-three patients who ranged in

Bergabunglah dengan
halaman facebook kami

Herbal & Natural Medicine

Database tanaman obat terlengkap yang didukung oleh sains

Bekerja dalam 55 bahasa
Pengobatan herbal didukung oleh sains
Pengenalan herbal melalui gambar
Peta GPS interaktif - beri tag herba di lokasi (segera hadir)
Baca publikasi ilmiah yang terkait dengan pencarian Anda
Cari tanaman obat berdasarkan efeknya
Atur minat Anda dan ikuti perkembangan berita, uji klinis, dan paten

Ketikkan gejala atau penyakit dan baca tentang jamu yang mungkin membantu, ketik jamu dan lihat penyakit dan gejala yang digunakan untuk melawannya.
* Semua informasi didasarkan pada penelitian ilmiah yang dipublikasikan