Screening of ass1 gene in two Saudi families from al-madinah al-monawarah with citrullinemia disorder
Omhani Malibari
International Journal of Molecular Biology, 2018
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Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations
Babak Behnam
JIMD Reports, 2022
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Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: A possible population cluster
Miriam Beatriz Bezard
Clinical Biochemistry, 2009
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Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia
Maria Kobayashi
Molecular Genetics and Metabolism, 2001
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Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster
Miriam Bezard
2009
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A search for the primary abnormality in adult-onset type II citrullinemia
Nazma Shaheen
American journal of human genetics, 1993
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Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
meng li
Human Genetics, 2000
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Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy
sujatha jagadeesh
Indian Pediatrics, 2013
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Early prediction of phenotypic severity in Citrullinemia Type 1
Anastasia Skouma
Annals of Clinical and Translational Neurology, 2019
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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
Keith Vaux
American Journal of Medical Genetics, 2008
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Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening
Han-Wook Yoo
Journal of the Korean Society of Neonatology, 2011
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Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis
In-Suk Kim
Journal of biochemistry and molecular biology, 2006
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Identification of citrullinaemia carrier and detection of a new silent mutation at 240bp position in ASS1 gene of normal Holstein cattle
Richa Singh Kushwah
Genetika, 2014
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Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia
Nazma Shaheen
PubMed, 1994
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Citrullinemia Type 1: A Rare Case
Garima Biyani
Annals of International medical and Dental Research
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Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes
Carlos Perez
The American journal of pathology, 2010
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Cirrhosis in an infant heterozygous for classical citrullinaemia
Fatih .Ezgu
Acta Paediatrica, 2007
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First manifestation of citrullinemia type I as Sandifer syndrome
Selda Bülbül
The Turkish journal of pediatrics, 2017
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Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease
Ambika Ashraf
Hepatology Research, 2003
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Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin
abdul jalil
Advances in Enzyme Regulation, 2001
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Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks
Tugba Hirfanoglu
Journal of Pediatric Neurosciences, 2018
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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
Kwang-Jen Hsiao
Journal of Human Genetics, 2005
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Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1
Anil Jalan
Journal of Fetal Medicine, 2021
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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
Shosei Kishida
Journal of Human Genetics, 2008
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