Results 71 to 80 of about 122,438 (258)

« Masonic Inborn » [PDF]

Cahiers d'études africaines, 2014
Le saxophoniste Albert Ayler enregistre en 1969 « Masonic Inborn », une longue et intense improvisation à la cornemuse. C’est, à notre connaissance, le seul titre de l’histoire du jazz faisant ouvertement référence à la tradition maçonnique. Cette rareté ne doit pourtant pas occulter que le fait maçonnique demeure un sujet passionnant et méconnu de l ...
openaire   +2 more sources

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 more
doaj   +1 more source

Inborn errors of immunity: Rare cause of chronic immune thrombocytopenia

, 2023
Safquat Jalil, Harshita Chaudhary, Abhinav Vishwakarma, Ahmed Jamal, Bal Mukund, M.K. Safal Muhammed   +5 more
openalex   +1 more source

No-one is Unmusical:Elizabeth, Everyday Cheermongery, and Active Musical Citizenship [PDF]

, 2011
Everyday cheermongers spread positive emotion through social contagion. This capability is illustrated here through a portrait of Elizabeth, a ‘Suzuki method’ violin teacher in Edinburgh.
Thin, Neil
core   +2 more sources

Comparison of eye measurements between young Korean women with inborn double eyelids and those with single eyelids [PDF]

, 2020
Han Byul Jung, Dong Gil Han, Jeong Su Shim, Yong Jig Lee, Sung-Eun Kim   +4 more
openalex   +1 more source

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, S N, Sarbadhikari, S, Kavitha   +2 more
core   +1 more source

Evidence-based Decision-making on Management of Arteriovenous Malformation of Face

Indian Journal of Vascular and Endovascular Surgery
Arteriovenous malformations (AVMs) are uncommon inborn vascular anomaly, making for about 1.5% of all vascular aberrations. Remarkably, approximately half of AVM cases manifest in the mouth cavity and faciomaxillary region.
Navin Shah, Rishabh N Shah, Anurag Jain, Nikhil Angre   +3 more
doaj  

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Rheumatological Diseases in Patients with Inborn Errors of Immunity in the USIDNET Registry [PDF]

, 2021
Nurcicek Padem, Hannah Wright, Ramsay Fuleihan, Elizabeth Garabedian, Daniel Suez, Charlotte Cunningham‐Rundles, Rebecca Marsh, Amer Khojah   +7 more
openalex   +1 more source

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Orphanet Journal of Rare Diseases, 2018
Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 more
doaj   +1 more source