WordNet

the 1st letter of the Roman alphabet (同)a
the blood group whose red cells carry the A antigen (同)type_A, group A
hardy and sure-footed animal smaller and with longer ears than the horse
a pompous fool

PrepTutorEJDIC

〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
Anglo-Saxon
answer / ampere
ロバ / ばか者
《米俗》しり,けつ(《英俗》arse)

UpToDate Contents

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1. 尿素サイクル障害：管理 urea cycle disorders management
2. 尿素サイクル障害：臨床的特徴および診断 urea cycle disorders clinical features and diagnosis
3. 先天性代謝異常：分類 inborn errors of metabolism classification
4. 幼児および小児における小頭症：病因および評価 microcephaly in infants and children etiology and evaluation
5. クレアチン代謝の先天性疾患 congenital disorders of creatine metabolism

English Journal

Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene.

Wu TF1, Liu YP1, Li XY1, Wang Q1, Song JQ1, Yang YL2.Author information 1Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.2Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address: yanlingy@vip.sina.com.AbstractBACKGROUND: Argininosuccinate synthetase deficiency (citrullinemia type 1) is a rare autosomal recessive disorder of the urea cycle characterized by elevated concentrations of citrulline, ammonia, and orotic acid, manifesting with acute hyperammonemic crises, usually early in life, with concurrent neurologic deterioration. Only a few cases of citrullinemia type 1 have been documented from mainland China. Prenatal diagnosis has not been performed.
Brain & development.Brain Dev.2014 Mar;36(3):264-7. doi: 10.1016/j.braindev.2013.03.005. Epub 2013 Apr 20.
BACKGROUND: Argininosuccinate synthetase deficiency (citrullinemia type 1) is a rare autosomal recessive disorder of the urea cycle characterized by elevated concentrations of citrulline, ammonia, and orotic acid, manifesting with acute hyperammonemic crises, usually early in life, with concurrent n
PMID 23611581

Molecular genetics of citrullinemia types I and II.

Woo HI1, Park HD2, Lee YW3.Author information 1Department of Laboratory Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, South Korea.2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.3Department of Laboratory Medicine & Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, South Korea. Electronic address: lywmd@schmc.ac.kr.AbstractOver the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes have been reported. The clinical manifestations of citrullinemia are quite heterogeneous, and most studies have reported mutations in a small number of patients from a few families. Comprehensive integration of previous knowledge is important to understand the mutation spectrum and effect of the mutations on clinical manifestations. Therefore, we reviewed the English literature on mutations in the ASS and SLC25A13 genes, and their genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia types I and II.
Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2014 Feb 5;431C:1-8. doi: 10.1016/j.cca.2014.01.032. [Epub ahead of print]
Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes have been reported. The clinical manifestations of citrullinemia are quite heterogeneous, and most studies have reported mutations in
PMID 24508627

Acute hepatic decompensation precipitated by pregnancy-related catabolic stress: a rare mimic of acute liver failure.

Sinclair M1, Ket S, Testro A, Gow PJ, Angus PW.Author information 1Liver Transplant Unit Victoria, Austin Health, Heidelberg, Victoria, Australia.AbstractBACKGROUND: Abnormal liver function tests are common in pregnancy; however, liver failure is rare. Pregnancy is a catabolic state that can precipitate illness in patients with underlying metabolic disorders.
Obstetrics and gynecology.Obstet Gynecol.2014 Feb;123(2 Pt 2):480-3. doi: 10.1097/AOG.000000000000005.
BACKGROUND: Abnormal liver function tests are common in pregnancy; however, liver failure is rare. Pregnancy is a catabolic state that can precipitate illness in patients with underlying metabolic disorders.CASE: A 19-year-old woman presented at 14 weeks of gestation with an alanine transaminase of
PMID 24413235