Results 151 to 160 of about 409,848 (384)
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa +2 more
wiley +1 more source
Characterization of severe fever with thrombocytopenia syndrome in rural regions of Zhejiang, China. [PDF]
, 2014 Severe fever with thrombocytopenia syndrome virus (SFTSV) infections have recently been found in rural regions of Zhejiang. A severe fever with thrombocytopenia syndrome (SFTS) surveillance and sero-epidemiological investigation was conducted in the ...
feng, Cen +9 more
core +5 more sources
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
A case of left atrial myxoma accompanied by pancytopenia and pathological findings suggestive of pulmonary hypertension [PDF]
, 1974 A case of left atrial myxoma accompanied by peculiar symptoms is reported. A 15-year old boy had progressive congestive heart failure and three episodes of acute attacks of panctyopenia. The anemia was accompanied by helmet-shaped, broken red blood cells,
Kawanishi, Koichi +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello +7 more
wiley +1 more source
PLoS Pathogens, 2019 Dengue virus (DENV) infection, the most common mosquito-transmitted viral infection, can cause a range of diseases from self-limiting dengue fever to life-threatening dengue hemorrhagic fever and shock syndrome. Thrombocytopenia is a major characteristic
Chiao-Hsuan Chao +6 more
semanticscholar +1 more source
Advances on Albumin‐Based Carriers for Anticancer Drug Delivery
Advanced NanoBiomed Research, EarlyView.This study systematically classifies the drug delivery modes of albumin by examining the characteristics of its surface‐active groups and internal binding sites. It provides an in‐depth analysis of various drug delivery strategies and their corresponding targeting mechanisms.
Ruoli Zhou +4 more
wiley +1 more source
Thrombocytopenia in end-stage renal disease and chronic viral hepatitis B or C [PDF]
, 2018 Objectives. We evaluated platelet counts in end-stage renal disease and chronic viral hepatitis. Materials and Methods. We studied 70 patients with end-stage renal disease and chronic viral hepatitis and compared them to a control group of 45 patients ...
Breaban, Iulia +12 more
core +1 more source
Mapping of transcription termination within the S segment of SFTS phlebovirus facilitated the generation of NSs-deletant viruses [PDF]
, 2017 SFTS phlebovirus (severe fever with thrombocytopenia syndrome virus; SFTSV) is an emerging tick-borne bunyavirus that was first reported in China in 2009. Here we report the generation of a recombinant SFTSV (rHB29NSsKO) that cannot express the viral non-
Brennan, Benjamin +2 more
core +1 more source