Results 81 to 90 of about 42,467 (260)

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

Neurobiology of Disease, 2010
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant, Elidie Béard, Céline Torrent, Hugues Henry   +3 more
doaj   +1 more source

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

Cells, 2019
Inborn errors of monoamine neurotransmitter biosynthesis and degradation belong to the rare inborn errors of metabolism. They are caused by monogenic variants in the genes encoding the proteins involved in (1) neurotransmitter biosynthesis (like tyrosine
S. Jung-Klawitter, Oya Kuseyri Hübschmann   +1 more
semanticscholar   +1 more source

Serum Cytokine Profiling Differentiates Underlying Diseases in Cytokine Storm Syndrome

Arthritis &Rheumatology, EarlyView.
Serum cytokine profiling was performed using Luminex (48 cytokines) and ELISA (5 cytokines). Assessment of key cytokines (IFN‐α, IL‐18, IL‐6, CXCL9) delineated five dominant inflammatory patterns: I, IFN‐α–dominant CSS; II, IL‐18–dominant CSS; III, IL‐6–dominant CSS; IV, IFN‐γ–dominant CSS; and V, IL‐6 & IFN‐γ intermediate CSS.
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

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

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.

Annals of Translational Medicine, 2018
Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicated ...
Marisha G Agana, Julia Frueh, M. Kamboj, D. Patel, S. Kanungo   +4 more
semanticscholar   +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

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

A perilous path: the inborn errors of sphingolipid metabolism

Journal of Lipid Research, 2019
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
T. Dunn, C. Tifft, R. Proia
semanticscholar   +1 more source