Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
African and Middle Eastern world, 600-1500
Details the history, empires, discoveries, art, peoples, and religions of Asia, Africa, and the Middle East from 600 to 1500 C ...
Pouwels, Randall Lee ca. 20./21. Jhr.
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Resolución Rectoral N° 600/2020. Establece.
Fil: Rector (R). Universidad Nacional de Río Negro. Río Negro, ArgentinaResolución Rectoral N° 600/2020. Establece que para la retribución a los/las docentes ordinarios/as de la Universidad Nacional de Río Negro que dicten asignaturas de carreras a ...
Rector (R)
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Dielectric Constant of Liquids (Fluids) Shown to be Simple Fundamental Relation of Density over Extreme Ranges from - 50^o^ to + 600^o^C, Believed Universal [PDF]
Examinations of past complex theoretical equations describing isothermal dielectric constants (_[epsilon]_) of liquids show that none describe experiments throughout and that only a two-constant equation of density is required.
William L. Marshall
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Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Inmunidad en la estreptococia de los terneros recién nacidos
En un establecimiento ganadero en el que se registraban, con elevada frecuencia, enfermedad y muerte de terneros, producidas por un estreptococo aislado e identificado recientemente por nosotros, ensayamos vacunas con distintos inactivantes y advuvantes ...
Walter Gerardo::http://voc.sedici.unlp.edu.ar/node/49941::600 Aguirre +2 more
doaj
Dielectric Constant of Water Discovered to be Simple Function of Density over Extreme Ranges from – 35 to + 600^o^C and to 1200 MPa (12000 Atm.), Believed Universal [PDF]
The experimental static dielectric constants (_[epsilon]_) of water formulated by Fernández, et al., (1997-International Association for the Properties of Water and Steam, IAPWS), –35 to 600^o^C; 0.1 to 1200 MPa, are discovered to be closely ...
William L. Marshall
core +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
Resistencia bacteriana a los antimicrobianos ocasionada por bombas de eflujo
La resistencia a los antimicrobianos representa un severo problema a nivel mundial. Se han descripto variados mecanismos de resistencia, entre los cuales se encuentran las bombas de eflujo.
María Laura::http://voc.sedici.unlp.edu.ar/node/50033::600 Marchetti +2 more
doaj +2 more sources

