Results 51 to 60 of about 6,916 (192)

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

JIMD Reports, 2020
Background Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies.
Zhen Qian, Jef Van den Eynde, Stephane Heymans, Luc Mertens, Eva Morava   +4 more
doaj   +1 more source

Investigation of Microscopic Nonmetallic Inclusions in Powder Metallurgical High‐Speed Steels

steel research international, EarlyView.
Methods for inclusion analysis are evaluated for suitability. Various powder metallurgical steels in different processing states are characterized. SEM/EDS data are further analyzed using analytical and statistical approaches. A thermodynamic method for determining inclusion phase composition is tested.
Manuel Schickbichler, Robert Musi, Martin Hafok, Christoph Turk, Gerald Schneeberger, Susanne Michelic   +5 more
wiley   +1 more source

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira   +10 more
doaj   +1 more source

New MoDC-Targeting TNF Fusion Proteins Enhance Cyclic Di-GMP Vaccine Adjuvanticity in Middle-Aged and Aged Mice

Frontiers in Immunology, 2020
Cyclic dinucleotides (CDNs) are promising vaccine adjuvants inducing balanced, potent humoral, and cellular immune responses. How aging influences CDN efficacy is unclear.
Himanshu Gogoi, Samira Mansouri, Divya S. Katikaneni, Lei Jin   +3 more
doaj   +1 more source

Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review

BMC Pediatrics, 2021
Background Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and genetic heterogeneity, and CDG-IIg is one of the rare reported types of CDG.
Yizhou Huang, Han Dai, Gangyi Yang, Lili Zhang, Shiyao Xue, Min Zhu   +5 more
doaj   +1 more source

Analyses of the Deformability and Chemistry of Non‐Metallic Inclusions in QT Steels With Increased Recycling‐Induced Tramp Element Content

steel research international, EarlyView.
This work uses high‐temperature dilatometry to examine how the tramp elements Cu, Ni, and Sn affect the deformability of non‐metallic inclusions and matrix in quench‐and‐temper steel. Mg‐bearing inclusions deform less than Mg‐free ones. Copper lowers formability. Nickel increases deformability.
Julian Cejka, Isabell Gruber, Gerald Klösch, Susanne Katharina Michelic   +3 more
wiley   +1 more source

Characterization of Nonmetallic Inclusions in Ce‐Containing Steels at the Submicroscopic Level

steel research international, EarlyView.
Accurate detection of nonmetallic inclusions (NMIs) is crucial for ensuring high standards in steel cleanness and properties. Optimized automated SEM/EDS measurements are required for evaluating Ce‐containing NMIs. This study enhances the characterization of submicroscopic NMI in Ce‐alloyed ultralow‐carbon, high‐manganese, and electrical steels ...
Kathrin Thiele, Robert Musi
wiley   +1 more source

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source

Atomic‐Scale Insights Into Tramp Element Segregation and Mechanical Performance of a Low‐Carbon Steel

steel research international, EarlyView.
Despite increased hardness, elevated tramp element concentrations in a ferritic‐pearlitic low‐carbon steel lead to enhanced toughness accompanied by a more homogeneous and finer ferritic microstructure. Atom probe tomography reveals pronounced segregation of some tramp elements at grain boundaries and ferrite–cementite interfaces, together with ...
Lukas Hatzenbichler, Maximilian Graf, Phillip Haslberger, Daniel Marian Ogris, Matthew Galler, Oleksandr Glushko, Ronald Schnitzer   +6 more
wiley   +1 more source

Comparison of venetoclax and azacitidine versus a cytarabine‐based treatment for patients with acute myeloid leukaemia in first relapse after chemotherapy. A real‐world study of the DATAML‐IPC‐AURAML consortium

British Journal of Haematology, EarlyView.
Summary Complete remission (CR) rates for patients with acute myeloid leukaemia (AML) treated with intensive chemotherapy (IC) have increasingly improved. Yet, relapse remains a concern with a dismal prognosis. In this report, results are presented of a retrospective analysis comparing salvage therapy based on intermediate (I) or high (H)‐dose ...
Pierre‐Yves Dumas, Sarah Bertoli, Emilie Bérard, Clémence Santana, Maël Heiblig, Thibaut Leguay, Suzanne Tavitian, Estelle Borgne, Anne‐Charlotte de Grande, Audrey Sarry, Ziyad Acheaibi, Laetitia Largeaud, Morgane Sighieri, Emilie Klein, Emmanuelle Tavernier, Marie‐Anne Hospital, Martin Carré, Gaspar Aspas Requena, Anne Banos, Norbert Vey, Arnaud Pigneux, Christian Récher, Sylvain Garciaz   +22 more
wiley   +1 more source