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Metabolic profiles and fingerprints for the investigation of the influence of nitisinone on the metabolism of the yeast Saccharomyces cerevisiae |
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| Hanna Barchanska, Joanna Plonka, Paulina Nowak, Marianna Kostina-Bednarz |
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| Scientific Reports. 2023; 13(1) |
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Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases |
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| Ayca Burcu Kahraman, Halil Tuna Akar, Naz Güleray Lafci, Yilmaz Yildiz, Aysegül Tokatli |
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| Molecular Syndromology. 2022; : 1 |
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The Discovery of the Mode of Action of Nitisinone |
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| Edward A. Lock |
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| Metabolites. 2022; 12(10): 902 |
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Therapeutic potential of AMPK signaling targeting in lung cancer: Advances, challenges and future prospects |
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| Milad Ashrafizadeh,Sepideh Mirzaei,Kiavash Hushmandi,Vahid Rahmanian,Amirhossein Zabolian,Mehdi Raei,Mahdi Vasheghani Farahani,Mohammad Ali Sheikh Beig Goharrizi,Haroon Khan,Ali Zarrabi,Saeed Samarghandian |
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Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report |
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| Guoqiang Li,Guoying Chang,Chen Wang,Tingting Yu,Niu Li,Xiaodong Huang,Xiumin Wang,Jian Wang,Jiwen Wang,Ruen Yao |
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| BMC Medical Genomics. 2021; 14(1) |
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Disorders of phenylalanine and tyrosine metabolism |
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| Hind Alsharhan,Can Ficicioglu |
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| Translational Science of Rare Diseases. 2020; : 1 |
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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients |
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| Adila Al-Kindi,Maryam Al-Shehhi,Ana Westenberger,Christian Beetz,Patrick Scott,Oliver Brandau,Lia Abbasi-Moheb,Zafer Yüksel,Peter Bauer,Arndt Rolfs,Nana-Maria Grüning |
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| Journal of Human Genetics. 2019; |
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Antibodies towards Tyrosine Amyloid-Like Fibrils Allow Toxicity Modulation and Cellular Imaging of the Assemblies |
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| Dor Zaguri,Topaz Kreiser,Shira Shaham-Niv,Ehud Gazit |
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| Molecules. 2018; 23(6): 1273 |
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Acquired thrombotic thrombocytopenia purpura associated with severe ADAMTS13 deficiency in a 3-year-old boy: a case report and review of the literature |
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| Hamidah Alias,Woon Lee Yong,Farah Azima Abdul Muttlib,Ho Wai Koo,C-Khai Loh,Sie Chong Doris Lau,Hafiza Alauddin,Raja Zahratul Azma |
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| Journal of Medical Case Reports. 2018; 12(1) |
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