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Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome.
Cruz L, Schnur RE, Post EM, Bodagala H, Ahmed R, Smith C, Lulis LB, Stahl GE, Kushnir A. Cruz L, et al. J Perinatol. 2014 Dec;34(12):948-50. doi: 10.1038/jp.2014.162. J Perinatol. 2014. PMID: 25421130
Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. ...
Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem invo …
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.
Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J. Martinovici D, et al. Eur J Med Genet. 2010 Jan-Feb;53(1):25-8. doi: 10.1016/j.ejmg.2009.10.004. Epub 2009 Nov 1. Eur J Med Genet. 2010. PMID: 19887127
The syndrome consisted of intra-uterine growth retardation, intestinal atresia, gallbladder aplasia and diabetes mellitus, and fitted with the diagnosis of Martinez-Frias syndrome, a very rare autosomal recessive phenotype, the gene of which remains to be ide …
The syndrome consisted of intra-uterine growth retardation, intestinal atresia, gallbladder aplasia and diabetes mellitus, and fitted with t …
What is this chocolate milk in my circuit? A cause of acute clotting of a continuous renal replacement circuit: Questions.
Kakajiwala A, Chiotos K, Brothers J, Lederman A, Amaral S. Kakajiwala A, et al. Pediatr Nephrol. 2016 Dec;31(12):2249-2251. doi: 10.1007/s00467-015-3305-1. Epub 2016 Jan 27. Pediatr Nephrol. 2016. PMID: 26815660 Free PMC article.
A literature search revealed three case reports of lipemic blood causing recurrent clotting and reduced CRRT circuit survival time in adult patients, but no reports of cases in children. DIAGNOSIS/TREATMENT: A 23-month-old male infant with Martinez-Frias syndrome …
A literature search revealed three case reports of lipemic blood causing recurrent clotting and reduced CRRT circuit survival time in adult …