Associated Papers
Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.
Zubarovskaya N et al.
Molecular Genetics and Metabolism, 2026
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Digital clubbing without hypoxia for lysinuric protein intolerance.
Watanabe D et al.
European Journal of Medical Genetics, 2024
A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.
Wang Y et al.
Heliyon, 2024
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
Matsukawa Y et al.
International Journal of Hematology, 2022
Characteristics and genetic analysis of patients suspected with early-onset systemic lupus erythematosus.
Lee WF et al.
Pediatric Rheumatology Online Journal, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient.
Liu A et al.
Biomed Research International, 2022
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
[Whole lung lavage in an infant with pulmonary alveolar proteinosis and literature review].
An K et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
Cui D et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.
Güzel-Ozantürk A et al.
Gene, 2013
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M et al.
European Journal of Human Genetics : Ejhg, 2009
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2008
Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance.
Kamada Y et al.
The Journal of Clinical Investigation, 2001
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Sperandeo MP et al.
American Journal of Human Genetics, 2000