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Molecular Genetics and Metabolism|December 7, 2007
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiencyLeandra Jäggi, Marcel R Zurflüh, Agnes Schuler, et al.
CVIR Endovascular|October 15, 2025
Splenic artery embolization for refractory ascites after liver transplantation: a single-center experienceMakoto Taninokuchi Tomassoni, Luciana Ingraldi, Paolo Pianta, et al.
Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.
Frontiers in Oncology|January 8, 2024
Metabolic pseudoprogression in a patient with metastatic KIT exon 11 GIST after 1 month of first-line imatinib: a case reportElisa Tassinari, Nicole Conci, Giacomo Battisti, et al.
JAMA Network Open|October 17, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its OpportunitiesDiana Carli, Paola Quarello, Francesco Porta, et al.
Molecular Genetics and Metabolism|July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patientsFilippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Npj Metabolic Health and Disease|May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopesGabriella Allegri, Martin Poms, Nadia Zürcher, et al.
Annals of Internal Medicine|November 17, 2010
Autologous mesenchymal stem cells foster revascularization of ischemic limbs in systemic sclerosis: a case reportSerena Guiducci, Francesco Porta, Riccardo Saccardi, et al.
Clinical and Experimental Rheumatology|June 22, 2026
Therapeutic advances in fibromyalgia: one year in review 2026Laura Bazzichi, Marco Di Carlo, Fausto Salaffi, et al.
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