Results 181 to 190 of about 38,593 (268)

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]

Int J Neonatal Screen
Vasco A, Berardo C, Lucchi S, Cappelletti L, Tamburello G, Fazzone S, Mauri A, Fiumani F, Postorivo D, Alberti L, Perrone Donnorso M, Gasperini S, Furlan F, Fiori L, Carelli S, Saielli LA, Montrasio C, Cereda C.   +17 more
europepmc   +1 more source

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

Imaging the Future: Diagnosing Treatable Neurometabolic Disorders in Children. [PDF]

Cureus
Eda IR, Ramachandran R, Joseph VM, Marreddy S, Mounika A.   +4 more
europepmc   +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

Spectrum and epidemiology of rare diseases in a Chinese natural population of 14.31 million residents, 2012-2023. [PDF]

Orphanet J Rare Dis
Li MJ, Li Q, Zhao MM, Kim H, Feng RQ, Guo MN, Heng JP, Yang JK, Liu C.   +8 more
europepmc   +1 more source

Fusion Pores as Regulators of Quantal Size and Cellular Physiology

BioEssays, EarlyView.
During regulated exocytosis, membrane fusion regulatory factors act directly on SNAREs and membrane lipids to control fusion pore dynamics. This, in turn, leads to a differential amount of cargo release (referred to in this article as “quantal size”) across various cell types, thereby triggering distinct physiological cues.
Bhavya R. Bhaskar, Shahina Mazumdar, Sruthilaya Dayanandan, Debasis Das   +3 more
wiley   +1 more source

Submission to the Committee on the Ethics of Gene Therapy [PDF]

, 1990
Joint Ethico-Medical Committee of the Catholic Union of Great Britain and the Guild of Catholic Doctors
core   +1 more source

Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice. [PDF]

J Clin Med
Roberti G, Maestrini G, Polito B, Amato L, Parolo E, Casazza G, Consolini R, Costagliola G.   +7 more
europepmc   +1 more source

Zebrafish: A Versatile and Powerful Model for Biomedical Research

BioEssays, EarlyView.
Zebrafish are vital for advancing precision medicine, offering a genetically tractable and optically transparent vertebrate model with strong genetic homology to humans. They enable rapid and cost‐effective disease modeling and drug discovery, accelerating insights into cardiovascular, neurological, metabolic, and oncological disorders through gene ...
Sundus Siddiqui, Hiba Siddiqui, Emna Riguene, Michail Nomikos   +3 more
wiley   +1 more source