Results 71 to 80 of about 1,894 (150)

Identificación de terneras Holando portadoras de BLAD y Citrulinemia en la región Este de Uruguay por PCR-RFLP y secuenciación. (Identification of Holstein heifer?s carriers BLAD and Citrullinemia in the eastern region of Uruguay by PCR-RFLP and sequencing).

, 2022
RESUMEN.La deficiencia en la adhesión leucocitaria bovina (BLAD) y en la enzima arginosuccinato sintetasa (Citrulinemia) son enfermedades de herencia autosómica recesiva que han sidodescritas a nivel mundial en la raza Holando.
LLAMBÍ, S., FEDERICI, M., BRANDA, A., BRIANO, C., DALLA RIZZA, M., ROMERO, A., DUTRA, F.   +6 more
core   +1 more source

Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

, 2022
Metabolites like lipids, amino acids or peptides can affect the immune system. Citrulline is an amino acid that activates several inflammatory pathways.
Oncel, Ibrahim, Yousefi, Mohammadreza, Karaca, Meryem, GÜCÜYENER, KIVILCIM, TEKE KISA, PELİN, Anlar, Banu, ARSLAN, NUR, ARSLAN GÜLTEN, ZÜMRÜT, İNCİ, ASLI, Gunduz, Mehmet, TÜMER, LEYLA, Vural, Atay, Unal, Ozlem, KOR, DENİZ, Oncel, İBRAHİM HALİL, Mungan, Neslihan Onenli, Kivilcim Gucuyener, Neslihan Onenli Mungan, Deniz Kor, Leyla Tumer, Banu Anlar, Ibrahim Oncel, Atay Vural, Özlem Unal, Mehmet Gunduz, Zumrut Arslan Gulten, Meryem Karaca, Asli Inci, Pelin Teke Kisa, Nur Arslan, Mohammadreza Yousefi   +30 more
core   +1 more source

Mri in a Case of Adult-Onset Citrullinemia

, 2009
A 42-year-old man presented with a history of repeated episodes of consciousness disturbance for 5 years. The MRI showed abnormally high signal intensities on T2-weighted images at bilateral cingulate gyri, temporal lobes and insular regions, mimicking ...
廖漢文;胡務亮, LIU, HON-MAN;HWU, WUH-LIANG   +1 more
core  

Glutamate and Gamma-Aminobutyric-Acid Neurotransmitter Systems in the Acute Phase of Maple Syrup Urine Disease and Citrullinemia Encephalopathies in Newborn Calves

, 1992
Cerebral cortex tissue was obtained at autopsy from neonatal Poll Hereford calves with clinically confirmed maple syrup urine disease (MSUD), neonatal Holstein-Friesian calves with clinically confirmed citrullinemia, and matched controls.
Gundlach, AL, Dennis, JA, Williams, SH, Johnston, Gar, Harper, Paw, Healy, PJ, Dodd, PR   +6 more
core   +1 more source

A Review of Selected Genes with Known Effects on Performance and Health of Cattle

Frontiers in Veterinary Science, 2016
There are genetic conditions that influence production in dairy and beef cattle. The objective of this review was to describe relevant genetic conditions that have been associated with productivity and health in cattle. Genes or genomic regions that have
Eduardo Casas, Marcus E. Kehrli
doaj   +1 more source

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Orphanet Journal of Rare Diseases, 2018
Background Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children.
Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma   +13 more
doaj   +1 more source

The first successful prenatal diagnosis on a Korean family with citrullinemia.

, 2000
DNA prenatal diagnosis was successfully performed on a family with citrullinemia. The father carried the G324S mutation and the mother carried the IVS6-2A > G mutation in the argininosuccinate synthase gene.
Hahn, SH, Paik, MK, Hong, KM, Yoo, OJ
core   +1 more source

Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol

, 2012
Citrullinemia is a urea cycle disorder caused by deficiency of argininosuccinate synthetase. Late onset forms can remain undiscovered until a decompensation that can resemble encephalitis.
Albrecht, Ursula, Rostasy, Kevin, Häberle, Johannes, Haberlandt, Edda, Scholl-Bürgi, Sabine, Karall, Daniela   +5 more
core   +1 more source

Homozygous Slc25a13 Mutation in a Taiwanese Patient with Adult-Onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma

, 2009
Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene.
蔡靜瑋;楊智超;陳慧玲;胡務亮;吳木榮;劉高郎;吳明賢, TSAI, CHING-WEI;YANG, CHIH-CHAO;CHEN, HUEY-LING;HWU, WUH-LIANG;WU, MU-ZON;LIU, KAO-LANG;WU, MING-SHIANG   +1 more
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No evidence of an association between lethal recessives citrullinemia, jersey haplotype 1, congenital muscular dystonia 1 and milk production and composition in Irish dairy cattle

, 2018
The purpose of this study was to ascertain if carriers of lethal recessive genetic disorders: citrullinemia, jersey haplotype1 (JH1) and congenital muscular dystonia 1 (CMD 1) were associated with positive or negative effects on milk production traits ...
Ratcliffe, Lyndsey, McClure, Jennifer, Flores, David F.G., Mullen, Michael P., Kearney, Francis, McClure, Matthew, Quigley, Katie   +6 more
core   +1 more source