Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Report
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MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiencyCasano, Kelsey R ; Ryan, Maura E ; Bicknese, Alma R ; Mithal, Divakar SRadiology case reports, 2021, Vol.16 (4), p.807-810Texto completo disponível |
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2 |
Material Type: Report
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Supplementary file for a recently published paper titled: Comparative Analysis of Leishmania Major Nucleoside Hydrolases Toward Selecting Multi-Target StrategySamaneh Farhadi ; Taghizadeh, Mohammad ; Mousavi-Niri, Neda ; Fahimeh NematiIslamic Azad University Tehran Medical Branch 2023Sem texto completo |
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3 |
Material Type: Report
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Microbial bile salt hydrolase activity influences gene expression profiles and gastrointestinal maturation in infant miceNúñez-Sánchez, María A. ; Herisson, Florence M. ; Keane, Jonathan M. ; García-González, Natalia ; Rossini, Valerio ; Pinhiero, Jorge ; Daly, Jack ; Bustamante-Garrido, Milán ; Hueston, Cara M. ; Patel, Shriram ; Canela, Nuria ; Herrero, Pol ; Claesson, Marcus J. ; Melgar, Silvia ; Nally, Ken ; Caplice, Noel M. ; Gahan, Cormac G.M.Gut Microbes, 2022, Vol.14 (1)Taylor & FrancisTexto completo disponível |
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4 |
Material Type: Report
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The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiencyHuang, Yue ; Chang, Richard ; Abdenur, Jose EMolecular genetics and metabolism reports, 2022, Vol.32, p.100885-100885Texto completo disponível |
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5 |
Material Type: Report
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3-Hydroxyisobutyryl-CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosisSaneifard, Hedyeh ; Mosallanejad, Asieh ; Fallahzadeh, Aida ; Sheikhy, AliClinical case reports, 2021, Vol.9 (7), p.e04528-e04528Texto completo disponível |
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6 |
Material Type: Report
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CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiencyGrudzinska Pechhacker, Monika K. ; Di Scipio, Matteo ; Vig, Anjali ; Tumber, Anupreet ; Roslin, Nicole ; Tavares, Erika ; Vincent, Ajoy ; Hèon, EliseOphthalmic Genetics, 2020, Vol.41 (5), p.457-464Taylor & FrancisTexto completo disponível |
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7 |
Material Type: Report
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Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle PathologyPetković Ramadža, Danijela ; Kuhtić, Ivana ; Žarković, Kamelija ; Lochmüller, Hanns ; Čavka, Mislav ; Kovač, Ida ; Barić, Ivo ; Prutki, MajaFrontiers in pediatrics, 2022, Vol.10, p.847445-847445Texto completo disponível |
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8 |
Material Type: Report
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Hemicellulosic biomass conversion by Moroccan hot spring Bacillus paralicheniformis CCMM B940 evidenced by glycoside hydrolase activities and whole genome sequencingMaski, Soufiane ; Ngom, Serigne Inssa ; Rached, Bahia ; Chouati, Taha ; Benabdelkhalek, Mohamed ; El Fahime, Elmostafa ; Amar, Mohamed ; Béra-Maillet, Christel3 Biotech, 2021, Vol.11 (8), p.379-379Texto completo disponível |
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9 |
Material Type: Report
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Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variantSikonja, Jaka ; Brecelj, Jernej ; Zerjav Tansek, Mojca ; Repic Lampret, Barbka ; Drole Torkar, Ana ; Klemencic, Simona ; Lipovec, Neza ; Stefanova Kralj, Valentina ; Bertok, Sara ; Kovac, Jernej ; Faganel Kotnik, Barbara ; Tesarova, Marketa ; Remec, Ziga Iztok ; Debeljak, Marusa ; Battelino, Tadej ; Groselj, UrhMolecular genetics and metabolism reports, 2022, Vol.30, p.100836-100836Texto completo disponível |
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10 |
Material Type: Report
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3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutationsKarimzadeh, Parvaneh ; Saberi, Mohammad ; Sheidaee, Kobra ; Nourbakhsh, Mitra ; Keramatipour, MohammadClinical case reports, 2019, Vol.7 (2), p.375-380Texto completo disponível |