Results 91 to 100 of about 26,055 (351)

Parkinsonism and inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2014
AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
S. T. Duarte, Angels García-Cazorla
openaire   +3 more sources

Antimicrobial Behavior of Simvastatin‐Loaded Solution Blow‐Spun PLA/PEO/HA Scaffolds

Journal of Applied Polymer Science, EarlyView.
Schematic for fiber spinning. ABSTRACT The development of three‐dimensional scaffolds with suitable biological properties is of crucial importance in bone repair. Incorporating antimicrobial functionality into these scaffolds can further enhance their clinical efficacy by helping prevent infections, particularly in patients undergoing orthopedic ...
João P. A. Caribé, Lucas R. F. Figueiredo, Rafaela R. Arimatéia, Raquel. S. Leite, Willams T. Barbosa, Josiane D. V. Barbosa, Carine R. Teixeira, Katharine V. S. Hodel, Juliana P. N. Souza, Jaqueline L. Vieira, Luís. A. L. Santos, Romualdo R. Menezes, Gelmires A. Neves, Kaline N. Ferreira, Eliton S. Medeiros, Nilmar Souza, Imarally V. S. R. Nascimento, Adillys M. C. Santos   +17 more
wiley   +1 more source

ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON'S DISEASE [PDF]

, 1971
An 11-year-old boy with terminal hepatic failure due to Wilson's disease was treated 18 months ago with orthotopic liver transplantation. Postoperatively, there has been evidence of clearance of body copper stores but without accumulation of copper in ...
Dubois, RS, Giles, G, Halgrimson, CG, Lilly, J, Martineau, G, Rodgerson, DO, Scheinberg, IH, Shroter, G, Starzl, TE, Sternlieb, I   +9 more
core   +1 more source

Efficacy and Safety of ABBV‐154 for the Treatment of Active Rheumatoid Arthritis: A Phase 2b, Randomized, Placebo‐Controlled Trial

Arthritis &Rheumatology, EarlyView.
Objective Despite the availability of biologic and targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) to treat rheumatoid arthritis (RA), many patients do not experience optimized disease control. Glucocorticoids are effective but have safety risks.
Frank Buttgereit, Atul Singhal, Alan Kivitz, Edit Drescher, Yoshinori Taniguchi, Rosalía Martínez Pérez, Jaclyn Anderson, Ronilda D'Cunha, Weihan Zhao, Nicholas DeVogel, Julie Parmentier, Romy Christmann, Dilek Arikan, Howard Amital   +13 more
wiley   +1 more source

Screening for inborn errors of metabolism. [PDF]

, 1969

openalex   +3 more sources

Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease

Molecular Genetics and Metabolism Reports
The current approach for investigating patients with suspected inborn errors of metabolism (IEMs) involves traditional targeted biochemical assays such as amino/organic acid analyses.
Rafael Garrett, Sara Pickett, Melinda J. Peters, Khadija Belhassan, Adam S. Ptolemy, Roy W.A. Peake   +5 more
doaj   +1 more source

Predicting metabolic biomarkers of human inborn errors of metabolism

Molecular Systems Biology, 2009
Early diagnosis of inborn errors of metabolism is commonly performed through biofluid metabolomics, which detects specific metabolic biomarkers whose concentration is altered due to genomic mutations.
Tomer Shlomi, Moran N Cabili, Eytan Ruppin   +2 more
doaj   +1 more source

Biochemistry and Molecular Biology PBL Cases

MedEdPORTAL, 2006
This resource is a collection of six problem-based learning (PBL) cases suitable for a biochemistry and molecular biology course taken by first- or second-year medical students.
Marshall Anderson
doaj   +1 more source

Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]

, 2019
Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna, Kim, Kyoungmi, Litwin, Tomasz, Mazi, Tagreed A, Medici, Valentina, Sarode, Gaurav V, Shibata, Noreene M   +6 more
core   +2 more sources

Serum cytokine profiling differentiates underlying diseases in cytokine storm syndrome

Arthritis &Rheumatology, Accepted Article.
Objective Cytokine storm syndrome (CSS), commonly associated with hemophagocytic lymphohistiocytosis (HLH), is a fatal hyperinflammatory syndrome. Differentiating the underlying diseases responsible for CSS is essential for timely therapeutic decisions. This study explored the clinical usefulness of serum cytokine profiling in distinguishing underlying
Shuya Kaneko, Maho Hatano, Asami Shimbo, Futaba Miyaoka, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mao Mizuta, Yasuo Nakagishi, Keiji Akamine, Naomi Iwata, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Koji Yokoyama, Toshinori Minato, Kazushi Izawa, Takahiro Yasumi, Tadashi Matsubayashi, Tadashi Hosoya, Hiroki Nishikawa, Junya Fujimura, Ryoko Asano, Yuko Sugita, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhide Eguchi, Ryuta Nishikomori, Ryuhei Yasuoka, Takaki Asano, Miyako Kanno, Kazuya Hamada, Yuji Fujita, Daisuke Hayashi, Shojiro Watanabe, Takeshi Shiba, Shinsuke Yasuda, Masaaki Mori, Hirokazu Kanegane, Masatoshi Takagi, Masaki Shimizu   +42 more
wiley   +1 more source