haemophagocytic lymphohistiocytosis, familial

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haemophagocytic lymphohistiocytosis, familial

(1) Familial haemophagocytic lymphohistiocytosis type 1 (OMIM:267700); due to defects in HPLH1.
(2) Familial haemophagocytic lymphohistiocytosis type 2 (OMIM:603553); due to defects in PRF1.
(3) Familial haemophagocytic lymphohistiocytosis type 3 (OMIM:608898); due to defects in UNC13D.
(4) Familial haemophagocytic lymphohistiocytosis type 4 (OMIM:603552); due to defects in STX11.
(5) Familial haemophagocytic lymphohistiocytosis type 5 (OMIM:613101); due to defects in STXBP2.
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References in periodicals archive ?
This research was supported by Fondo Nacional de Dessarollo Cientifico y Tecnologico (FONDECYT 1170598), the National Science Foundation (OCE0623102), funding for Special Academic Activities from the Universidad Catolica de la Santfsima Conception (UCSC), the Faculty of Science of the UCSC, the Estacion de Biologfa Marina Abate Juan Ignacio Molina of UCSC, and the Friday Harbor Laboratories (FHL) of the University of Washington.
The World Health Organization (WHO), through the Commission on Social Determinants of Health, identified FHL as one of the social determinants of health, establishing its relationship with the quality of life of the population, considering it as fundamental to self-care (7).
The bank said the stake was sold in various tranches, last being on December 18, 2018, which resulted in change in holding of the bank by more than 2 percent of the total shareholding in FHL. Companies are required to inform the exchanges if the change in shareholding of an entity is over 2 percent.
In contrast, the results from our study suggest an intermediate both cold and hot temperature tolerance for the central CA populations with both increased cold tolerance and decreased heat tolerance in comparison to more southern populations but slightly decreased cold tolerance in comparison to the FHL population to the north.
Therefore we aimed to investigate the effects of Cr supplementation on the recovery of tendinopathy, of the FHL, in adolescent fin swimmers.
Maria Hälleberg Nyman, Ph.D., from Örebro University in Sweden, and colleagues conducted an observational study to describe FHL levels in patients in Sweden undergoing day surgery.
There was significant variation in Vc, TTA, and Pro of the seventeen peach powders (P < 0.05), with GX1 having the highest Vc and FHL showing the highest TTA and Pro (Table 2).
Magnetic resonance imaging (MRI) showed a single elliptical nodule in the plantar capsule at the IPJ of the great toe, distinct from the FHL tendon, and showed fluid accumulation in the IPJ and the tendon sheath of the FHL indicative of tenosynovitis (Figure 2).
Young Cancer productus were collected from their intertidal nursery habitats at FHL with the help of volunteers and interns.
London, United Kingdom, June 09, 2016 --(PR.com)-- FHL is pleased to announce that NetSuite Inc., the industry's leading provider of cloud enterprise resource planning (ERP) and omnichannel commerce software suites, has chosen FHL as its NetSuite 2016 Solution Provider Partner of the Year in EMEA, for the fifth time.
Based on those results and the case presentation indicating posterior ankle pain, a diagnosis of posterior ankle impingement caused by tenosynovitis of the flexor hallucis longus (FHL) sheath was confirmed.