Results 91 to 100 of about 39,677 (355)

LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]

, 1983
A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper, Alper Ca, Con, Folkman, Greene, Greene, Kashiwagi, Kashiwagi, Merrill, Nordlie, Raum, Starzl, Starzl, Starzl, Starzl, Starzl   +15 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

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

Sjögren Disease—B Cells at the Brink: From Autoimmunity to Lymphomagenesis and the Rise of Novel B Cell‐Targeted Therapies

Arthritis &Rheumatology, Accepted Article.
Sjögren disease (SjD) is a common systemic autoimmune disorder characterized by inflammation of the exocrine glands, resulting in dryness. Patients frequently exhibit extraglandular manifestations affecting various organ systems. To date, there are no FDA‐approved disease‐modifying therapies for SjD.
Rachael A. Gordon, Sara S. McCoy
wiley   +1 more source

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Journal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria   +9 more
doaj   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

Fungal Biodiversity From the Atlantic Forest With Bioactive Metabolites Against Cutaneous Leishmaniasis

Chemistry &Biodiversity, EarlyView.
ABSTRACT Biodiversity offers a rich source of bioactive compounds for drug discovery. We isolated Aspergillus fumigatus from compost in the Atlantic Forest and found its extract active against Leishmania (Leishmania) amazonensis. Two crude extracts, I06 and I75, were selected for further study.
Juliana Cristina Pereira Calado, Marina Valente Navarro, Alison Felipe Alencar Chaves, Isis Casula, Patricia Locosque Ramos, João Batista da Cruz, Anderson Messias Rodrigues, Keith Dayane Leite Lira, Fernando Luiz Affonso Fonseca, Patricia Xander, Suzan Pantaroto de Vasconcellos, Wagner Luiz Batista   +11 more
wiley   +1 more source

Opportunities and Challenges of the Application of Nuclear Magnetic Resonance‐Based Cerebrospinal Fluid Metabolomics for Clinical Research

Chemistry–Methods, EarlyView.
Cerebrospinal fluid (CSF) is an important diagnostic matrix in neurology. This review illustrates the potentials and pitfalls of current CSF analysis by nuclear magnetic resonance. Created with BioRender.com in BioRender. Berezhnoy, G. (2025) https://BioRender.com/x80l903. Web of Science is owned by Clarivate.
Georgy Berezhnoy, Jannik Sprengel, Claire Cannet, Nils Pompe, Christoph Trautwein   +4 more
wiley   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source