WordNet

street name for lysergic acid diethylamide (同)back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds, pane, superman, window pane, Zen
any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
having the characteristics of an acid; "an acid reaction"

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
酸性の / 酸味のある,すっぱい(sour) / (言葉・態度などが)厳しい,しんらつな / 酸 / すっぱいもの / 《俗》=LSD

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1. Causes of cholestasis in neonates and young infants
2. 尿酸のバランス uric acid balance
3. ビタミンB12および葉酸欠乏症の診断および治療 diagnosis and treatment of vitamin b12 and folate deficiency
4. 原発性胆汁性胆管炎（原発性胆汁性肝硬変）の治療の概要 overview of the treatment of primary biliary cholangitis primary biliary cirrhosis
5. 出産時の臍帯血酸塩基分析 umbilical cord blood acid base analysis at delivery

English Journal

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Liu G, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X.Author information School of Bioscience & Bioengineering, South China University of Technology, Guangzhou 510640, China; BGI-Shenzhen, Shenzhen 518083, China.AbstractType II citrullinaemia, also known as citrin deficiency, is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3. One of the clinical manifestations of type II citrullinaemia is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency (NICCD, OMIM# 605814). In this study, a 5-month-old female Chinese neonate diagnosed with type II citrullinaemia was examined. The diagnosis was based on biochemical and clinical findings, including organic acid profiling using a gas chromatography mass spectrometry (GC/MS), and the patient's parents were unaffected. Approximately 14 kb of the exon sequences of the SLC25A13 and two relative genes (ASS1 and FAH) from the proband and 100 case-unrelated controls were captured by array-based capture method followed by high-throughput next-generation sequencing. Two single-nucleotide mutations were detected in the proband, including the previous reported c.1177+1G>A mutation and a novel c.754 G>A mutation in the SLC25A13 gene. Sanger sequence results showed that the patient was a compound heterozygote for the two mutations. The novel mutation (c.754 G>A), which is predicted to affect the normal structure and function of citrin, is a candidate pathogenic mutation. Target sequence capture combined with high-throughput next-generation sequencing technologies is proven to be an effective method for molecular genetic testing of type II citrullinaemia.
Gene.Gene.2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23.
Type II citrullinaemia, also known as citrin deficiency, is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3. One of the clinical manifestations of type II citrullinaemia is neonatal intrahepatic cholestatic hepatitis caused
PMID 24161253

Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

Mohseni J, Boon Hock C, Abdul Razak C, Othman SN, Hayati F, Peitee WO, Haniffa M, Zilfalil BA, Mohd Rawi R, Ngu LH, Sasongko TH.Author information Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia.AbstractBACKGROUND: Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.
Gene.Gene.2014 Jan 1;533(1):240-5. doi: 10.1016/j.gene.2013.09.081. Epub 2013 Oct 5.
BACKGROUND: Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most repor
PMID 24103480

LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases.

Mello AS, Goldim MP, Mezzalira J, Garcia CS, Daitz VV, Castilhos CD, Viegas MS, Vieira OV, Coelho JC.Author information Department of Biochemistry, ICBS-UFRGS, Federal University of Rio Grande do Sul, Rua: Ramiro Barcelos, 2600-anexo, Porto Alegre, RS, 90035-003, Brazil, melloas@gmail.com.AbstractFollowing the degradative pathway, vesicles loaded with extracellular material, eventually, dock and fuse with lysosomes, acquiring specific membrane markers of these organelles and acid hydrolases responsible for digest their content. The lysosomal-associated membrane protein 2 (LAMP-2), the best characterized lysosomal membrane protein, is found in late stages of endosome maturation and may be used as a marker of lysosome-associated membranes. Lysosomal storage disorders (LSDs) are described by the absence or deficiency in hydrolase activity leading to substrate accumulation within lysosomal components and to the onset of several diseases. It is known that lymphocytes infected by Epstein-Barr virus (EBV) are able to form cytoplasmic vacuoles, which work as a storage compartment for lysosomal acidic hydrolases. At the present study, we validate the EBV as a transforming agent of B lymphocytes in stability studies of long-term stored samples, since the methods used to keep samples in liquid nitrogen and thaw them have all proven to be efficient in samples frozen for up to 2 years. To confirm and investigate some of the most prevalent LSDs in the South of Brazil-Pompe, Fabry and Gaucher diseases-we first measured the enzymatic activity of α-glicosidase, α-galactosidase, and β-glicosidase in those cytoplasmic-formed vacuoles and then looked to LAMP-2 immunoreactivity by employing confocal microscopy techniques.
Molecular and cellular biochemistry.Mol Cell Biochem.2014 Jan;385(1-2):1-6. doi: 10.1007/s11010-013-1806-4. Epub 2013 Sep 26.
Following the degradative pathway, vesicles loaded with extracellular material, eventually, dock and fuse with lysosomes, acquiring specific membrane markers of these organelles and acid hydrolases responsible for digest their content. The lysosomal-associated membrane protein 2 (LAMP-2), the best c
PMID 24068328

Japanese Journal

Hepatorenal tyrosinemia

KITAGAWA Teruo
Proceedings of the Japan Academy, Series B 88(5), 192-200, 2012
… 4-Hydroxyphenylpyruvate dioxygenase deficiency was originally proposed as the cause of HRT. … found that succinylacetone, which accumulates in the serum and urine from patients with HRT, inhibits delta-aminolevulinic acid (ALA) dehydratase in vitro. … They suggested that the primary enzyme deficiency in patients with HRT was fumarylacetoacetate hydrolase, and this was soon confirmed. …
NAID 130001924745

Acid Sphingomyelinase: Relation of 93Lysine Residue on the Ratio of Intracellular to Secreted Enzyme Activity

Takahashi Ikuko,Takahashi Tsutomu,Mikami Tamaki,Komatsu Masaki,Ohura Toshihiro,Schuchman Edward H.,Takada Goro
The Tohoku Journal of Experimental Medicine 206(4), 333-340, 2005
… Acid sphingomyelinase (ASM) is the lysosomal enzyme responsible for the hydrolysis of sphingomyelin to ceramide and phosphocholine. … An inherited deficiency of this enzymatic activity results in the Type A and B forms of Niemann-Pick disease (NPD). … We therefore sought to understand the mechanism(s) that might regulate intracellular targeting and secretion of this important hydrolase. …
NAID 130004459427

Determination of Folate Derivatives in Rat Tissues during Folate Deficiency

Nakata Rieko
Journal of nutritional science and vitaminology 46(5), 215-221, 2000-10-01
… The method involves hydrolysis by γ-glutamyl hydrolase and high-performance liquid chromatography with electrochemical detection. … The method was applied to measure the change in the level of folate derivatives in the liver, kidney, spleen and brain of rats during folate deficiency. … 5, 6, 7, 8-Tetrahydrofolic acid was the major folate derivative in the liver, kidney, spleen and brain. …
NAID 10010804460