Results 81 to 90 of about 1,894 (150)

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

BMC Medical Genetics, 2019
Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene.
Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu   +8 more
doaj   +1 more source

A case of type II citrullinemia misdiagnosed as conversion disorder [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2017
Conversion disorder (CD) is a psychiatric disorder which can mimic organic disorders due to symptom similarities. It is characterized by the presence of one or more neurologic or vegetative symptoms that are usually triggered by stress.
seda aybuke sari, esin ozatalay
doaj  

Parenteral Nutrition Independence in a Patient Left with 25cm of Ileum and Jejunum: A Case Report [PDF]

, 2018
A 44-year-old woman with a history of Roux-en-Y gastric bypass (RYGBP) suffered small bowel volvulus. She was left post-operatively with an intact duodenum, 25cm of jejunum and ileum, and a colon in continuity, a situation synonymous to short bowel ...
Pichard, Claude, Huber, Olivier, Genton, Laurence, Nardo, Patrizia   +3 more
core  

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey

International Journal of Neonatal Screening
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated.
Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung   +27 more
doaj   +1 more source

Incidence of hereditary Citrullinemia and bovine Ieucocyte adhesion deficiency Syndrome in Indian dairy cattie (BOS TAURUS, BOS INDICUS) and buffalo (<i>BUBALUS BUBALIS</i>) Population (short communication)

, 1999
. PCR based Screening of the cattle and buffaloe bulls for Bovine Lcucocyte Adhesion Deficiency Syndrome (BLAD) and Citrullinemia genetic disorders were carried out. A total of 330 cattle belonging to 4 breeds and 135 buffaloes of 3 breeds were genotyped.
K. Vijaykumar, S. Grupe, M. Schwerin, M. Pratp Narayan, M. Padeeri, M. Hitesch Kumar   +5 more
core   +1 more source

Clinical significance of elevated serum citrulline levels in patients with epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Objective To discuss the clinical significance of elevated serum citrulline levels in patients with epilepsy, and to provide new idea for improving the curative effect of antiepileptic drugs (AEDs).
Yan ZHANG, Yan-ling CHEN, Mei-mei HAO, Na QIN, Yan-chun DENG   +4 more
doaj  

Neonatal sitrüllineminin ağır fulminan formu : Bir olgu sunumu [PDF]

, 2011
Citrullinemia is a rare autonomic recessive disorder. The diagnosis of citrullinemia is based on biochemical analysis of blood, plasma, and urine, revealing increased levels of ammonia, citrulline, glutamine, and orotic acid.
Hamilcıkan, Şahin, Sümengen, Dilek, Pekün, Fügen, Akşahin, Berna, Genenş, Mikayir, Nuhoğlu, Asiye, Şilfeler, İbrahim   +6 more
core  

Parenteral nutrition independence in a patient left with 25 cm of ileum and jejunum: a case report

, 2010
A 44-year-old woman with a history of Roux-en-Y gastric bypass (RYGBP) suffered small bowel volvulus. She was left post-operatively with an intact duodenum, 25 cm of jejunum and ileum, and a colon in continuity, a situation synonymous to short bowel ...
Pichard, Claude, Huber, Olivier, Nardo, Patrizia, Genton Graf, Laurence, Pichard C, Genton L, Nardo P, Huber O   +7 more
core   +1 more source

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult‐onset type II citrullinemia

, 1995
Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia. Type II citrullinemia is found in most patients with adult-onset citrullinemia in Japan, and ASS is deficient specifically in the liver.
Keiko Kobayashi, Hiroki Terazono, Takuro Shinsato, Masanori Nakata, Takeyori Saheki   +4 more
core   +1 more source

Carrier frequency of autosomal recessive disorders (BC, BLAD, FXID and CVM) in Holstein cows in Jalisco, Mexico

Pesquisa Veterinária Brasileira
: The hereditary autosomal recessive disorders bovine citrullinemia (BC), bovine leukocyte adhesion deficiency (BLAD), factor XI deficiency (FXID), and complex vertebral malformation (CVM) have affected dairy cattle breeding significantly around the ...
Abraham Virgen-Méndez, Miguel A. Ayala-Valdovinos, Jorge Galindo-García, David R. Sánchez-Chiprés, Clemente Lemus-Flores, Theodor Duifhuis-Rivera   +5 more
doaj   +1 more source