Categoría: Articulos
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Generation and characterization of induced pluripotent stem cells from a patient with classic Fabry disease [ Author ] Guowei Li,Jing Luan,Zihan Li,Yali Yang,Chonghao Shao,Jing Wang,Zhenzhong Han,Quanlin Wang,Yuan Zhu,Che Yu,Yazhou Cui,Jinxi…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene [ Author ] Jinyu Liu,Yi Wu,Shixuan Xu,Yirui Qin,Guoqiang Li,Yiyao Chen,Lulu Li,Fang Liu,Shuyuan…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Mitochondrial DNA A3243G variant-associated MELAS: Recent advances in clinical trials, therapeutic interventions, and disease-modifying strategies [ Author ] Kuan-Yu Chu [ Publication date ] 2026-09-30 [ DOI ] https://doi.org/10.5582/irdr.20…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review [ Author ] Christina L Minar Napitupulu,Jeslyn Tengkawan,Agustini Utari,Tri Indah Winarni,Nydia Rena Benita Sihombing [ Publication date ] 2026-09-30 [ DOI…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene [ Author ] Jinyu Liu,Yi Wu,Shixuan Xu,Yirui Qin,Guoqiang Li,Yiyao Chen,Lulu Li,Fang Liu,Shuyuan…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Traditional Chinese medicine research on rare diseases: Publication trends and future perspectives [ Author ] Li-ming Chen,Xin-yi Chen,Bo-wen Liu,Ying Mu,Qi Kang,Huan-gan Wu [ Publication date ] 2026-09-30 [ DOI ] https://doi.org/10.5582/ird…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review [ Author ] Christina L Minar Napitupulu,Jeslyn Tengkawan,Agustini Utari,Tri Indah Winarni,Nydia Rena Benita Sihombing [ Publication date ] 2026-09-30 [ DOI…
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Economic and diagnostic impact of adopting WES and WGS as first-tier tests in the paediatric rare disease diagnosis: evidence from Italy and Spain
Background Methods Results Conclusions …
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Ferroptosis and glutarylation of glutamate dehydrogenase are involved in neurological impairment in glutaric acidemia type I
Background Methods Results Conclusions …
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A homozygous missense variant in NRROS gene is associated with intracranial calcifications, neurodegeneration, and severe infantile epilepsy syndrome
Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this condition. We describe two siblings from a consanguineous family with this disorder, carrying a homozygous NRROS…