Results 81 to 90 of about 57,504 (328)

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

Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism.

Circulation Research, 2017
The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function.
J. Towbin, J. Jefferies
semanticscholar   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Defective Ribosome Recycling: A Bridge Between Translation Fidelity, Organelle Dysfunction, and Diseases

BioEssays, EarlyView.
The Role of Ribosome Recycling in Human Diseases This diagram highlights how disruptions in ribosome translation and recycling can negatively impact cellular and organismal health. Usually, these processes operate efficiently to maintain cellular protein homeostasis.
Foozhan Tahmasebinia, Zhihao Wu
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2018
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong   +5 more
semanticscholar   +1 more source

LABRAD : Vol 41, Issue 3 - December 2015 [PDF]

, 2015
Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core   +1 more source

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
core   +1 more source

Increased Extra‐Axial Cerebrospinal Fluid Volume in Children With Angelman Syndrome: Links to Sleep Problems and Seizures

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Previous studies demonstrated that children with autism have enlarged volumes of extra‐axial cerebrospinal fluid (EA‐CSF) and an increased ratio of EA‐CSF to brain volume, indicating that EA‐CSF is disproportionally increased beyond macrocephaly often observed in autism.
Zumin Chen, Dea Garic, Yinuo Xu, Rachel G. Smith, Leigh Anne H. Weisenfeld, Sun Hyung Kim, Martin A. Styner, Joseph Piven, Benjamin D. Philpot, Heather C. Hazlett, Mark D. Shen   +10 more
wiley   +1 more source

Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará

Molecular Genetics & Genomic Medicine, 2023
Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, biochemical ...
Pedro E. Bonfim‐Freitas, Roseani S. Andrade, Ândrea K. Ribeiro‐dos‐Santos, Luiz C. Santana‐da Silva   +3 more
doaj   +1 more source

Inborn errors of enzymes in glutamate metabolism

Journal of Inherited Metabolic Disease, 2019
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Lynne Rumping, Esmee Vringer, R. Houwen, P. V. van Hasselt, J. Jans, N. Verhoeven-Duif   +5 more
semanticscholar   +1 more source