ArticlePediatric pulmonology2017
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
Article in Pediatric pulmonology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Pulmonary Alveolar Proteinosis: Rethinking Surfactant Homeostasis Through Alveolar Macrophage Lipid-Handling Dysfunction.Arteriosclerosis, thrombosis, and vascular biology · 2026Review
- Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).The Journal of experimental medicine · 2026Article
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.Orphanet journal of rare diseases · 2026Article
- Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.Molecular medicine (Cambridge, Mass.) · 2025Article
- Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.Current research in physiology · 2025Review
- LASSO-derived nomogram for early identification of pediatric monogenic lupus.World journal of pediatrics : WJP · 2024Article
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report.Italian journal of pediatrics · 2024Article
- Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.Pediatric investigation · 2024Article
- A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.Heliyon · 2024Article
- Article
- Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.Disease models & mechanisms · 2023Article
- [Current Status of and Challenges in Diagnosis and Treatment of Childhood Diffuse Parenchymal Lung Diseases/Childhood Interstitial Lung Diseases].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2021Review
- Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.Frontiers in pediatrics · 2021Article
- Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.Advances in experimental medicine and biology · 2021Review
- InducibleInternational journal of molecular sciences · 2019Article
- Overview of symptoms and treatment for lysinuric protein intolerance.Journal of human genetics · 2019Review
- [Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Analysis of LPI-causing mutations on y+LAT1 function and localization.Orphanet journal of rare diseases · 2019Article
- New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.Pediatric pulmonology · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM-CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects.
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