Results 191 to 200 of about 37,810 (312)

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Bimekizumab efficacy and safety in Chinese patients with psoriasis in the BE SHINING Phase 3 study

Journal of the European Academy of Dermatology and Venereology, EarlyView.
In Chinese patients with moderate to severe plaque psoriasis, bimekizumab treatment was well tolerated and led to significantly higher clinical response rates versus placebo, including complete skin clearance. These findings were consistent with global studies and suggest that bimekizumab is an effective treatment option for Chinese people living with ...
Lin Cai, Xiao‐Yong Man, Jinyan Wang, Aihua Wei, Ying Chen, Delphine Deherder, Jun Gao, Bengt Hoepken, Weiwei Sun, Tingting Lei, Jianzhong Zhang, the BE SHINING Study Group   +11 more
wiley   +1 more source

Steroidomics via Gas Chromatography-Mass Spectrometry (GC-MS): A Comprehensive Analytical Approach for the Detection of Inborn Errors of Metabolism. [PDF]

Life (Basel)
Chiara F, Allegra S, Liuzzi S, Puccinelli MP, Mengozzi G, De Francia S.   +5 more
europepmc   +1 more source

Which liver-disease patients need a transplant? [PDF]

, 1988
Gordon, RD, Iwatsuki, S, Kahn, D, Klintmalm, G, Koneru, B, Makowka, L, Marsh, JW, Sher, L, Starzl, TE, Staschak, S, Stieber, A, Todo, S, Tzakis, AG, Van Thiel, D   +13 more
core  

Stem microanatomical phenomic uncovers a potential role for ZmLSM2 in regulating maize stem bending strength

Journal of Integrative Plant Biology, EarlyView.
Maize ZmLSM2 (U6 small nuclear ribonucleoprotein specific Sm‐like 2) controls maize stem strength by affecting vascular bundle structure. Using advanced computed tomography imaging and artificial intelligence identified key stem traits linked to lodging resistance and developed a predictive model.
Ying Zhang, Zejia Wang, Jianjun Du, Jiawen Li, Guanmin Huang, Yanxin Zhao, Yanru Wang, Qingmei Men, Minkun Guo, Minggang Zhang, Xianju Lu, Chuanyu Wang, Qikun Liu, Xinyu Guo, Chunjiang Zhao   +14 more
wiley   +1 more source

Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia. [PDF]

Sage Open Pediatr
Habib A, Abdul Malik NA, Abu Yamin AH, Abdul Rahman S, Apparow S, Wan Mahiyuddin WR, Yakob Y, Lock Hock N.   +7 more
europepmc   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]

PeerJ
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc   +1 more source

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, EarlyView.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism. [PDF]

J Inherit Metab Dis
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, D'Alessandro A, Di Felice G, Maistri M, Baldissone E, Fratti AM, Simeoli R, Sacchetti E, Cairoli S, Rizzo C, Pariante R, Vacca M, Cappoli A, Albano C, Pietrobattista A, Spada M, Vici CD.   +21 more
europepmc   +1 more source