carboxylase/muntah

Tautan disimpan ke clipboard

ArtikelUji klinisPaten

Pilih jenis pengurutan

Halaman 1 dari 38 hasil

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

METHODS There are considerable uncertainty and debate regarding all aspects of newborn screen-positive cases of 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD), including diagnostic criteria, clinical spectrum, morbidity, prognosis, and appropriate management. To address some of these

Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Propionyl-CoA carboxylase (PCC) catalyzes the biotin-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA in the mitochondrial matrix. Human PCC is a dodecamer composed of pairs of nonidentical alpha and beta subunits encoded by PCCA and PCCB genes, respectively. Deficiency of PCC results

[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described. Since birth he developed vomiting, hypothermia, lethargy, irritability, hypoglycemia and severe metabolic acidosis. During admission a progressive deterioration was observed. Despite different attempted

[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

OBJECTIVE Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder. MCD is characterized by skin rash, metabolic acidosis, vomiting and psychomotor retardation. Depending on deficiency of the enzyme, MCD includes two different forms, biotinidase deficiency (BTD, OMIM 253260) and

3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Objective To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) should be routinely screened in newborns. Methods Dried blood spots (DBS) were collected and analyzed by tandem mass spectrometry (TMS). Blood samples were collected from infants with positive 3-MCCD results. Targeted

Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Vomiting, lethargy and metabolic acidosis were the main initial symptoms of metabolic disease in a 1 month old girl. Her older sister had died from a similar disease, considered to be Reye's syndrome, at an age of 15 months. The urine of the present case contained 2-methylcitric acid,

A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and cultured fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response

Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic

Congenital lactic acidosis due to pyruvate carboxylase deficiency: absence of an inhibitor of TPP-ATP phosphoryl transferase.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Two children are described who suffered from episodes of metabolic acidosis and progressive mental and motor deterioration. The patients showed periodic elevation of blood lactate, pyruvate and alanine, which was accompanied by vomiting, hypotonia or convulsions. The concentrations of lactate and

Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

A male infant who had vomiting and coma in the absence of ketoacidosis was initially thought to have dysautonomia because of abnormal responses to methacholine and histamine, as well as abnormal urinary catecholamine excretion. Following an episode of hyperammonemia, a liver biopsy was performed

Propionyl-CoA carboxylase - A review.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected

Propionic acidemia: a neuropathology case report and review of prior cases.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Propionic acidemia is a disorder of branch-chain amino acid and odd-chain fatty acid metabolism. The clinical features typically begin shortly after birth, with rare cases presenting in young adulthood. This disorder most commonly is characterized by episodic decompensations with dehydration,

Outcome of organic acidurias in China.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and

[Infant boy with propionic acidemia: anesthetic implications].

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

A 12-month-old boy diagnosed with propionic acidemia underwent gastrostomy. The patient's general state was good and he was alert, but with reduced muscular tone (unstable when seated with support, floppy head) and with dystonic movements in all extremities. An electroencephalogram showed slightly

Sebelumnya
1
2
3
Lanjut

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