Last Posted: Dec 21, 2020
- [Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]
Sánchez Pintos Paula et al. Revista espanola de salud publica 2020 Dec 94
- Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis.
Zhao Yining, et al. World journal of urology 2020 9
- Cystinuria: clinical practice recommendation.
Servais Aude et al. Kidney international 2020 Sep
- Polymorphism in the PBX1 gene is related to cystinuria in Brazilian families.
Reis Sabrina T, et al. Journal of cellular and molecular medicine 2019 2 (2) 1593-1597
- Inborn errors of metabolism in the 21 st century: past to present.
Arnold Georgianne L et al. Annals of translational medicine 2018 Dec 6(24) 467
- No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.
Olschok Kathrin, et al. BMC nephrology 2018 10 (1) 278
- Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study.
Markazi Samaneh, et al. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences 2017 0 33
- Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
Halbritter Jan, et al. Journal of the American Society of Nephrology : JASN 2015 3 (3) 543-51
- Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
Koulivand Leila, et al. Urolithiasis 2015 10 (5) 447-53
- Urine proteomic analysis in cystinuric children with renal stones.
Kovacevic Larisa, et al. Journal of pediatric urology 2015 8 (4) 217.e1-6
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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