Results 51 to 60 of about 1,195,963 (357)
Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]
, 2019 BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria +9 more
core +1 more source
Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome
Pediatric Blood &Cancer, EarlyView.ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim +8 more
wiley +1 more source
Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis
Frontiers in Immunology, 2018 Epstein–Barr virus (EBV) is a ubiquitous virus that infects nearly all people worldwide without serious sequela. However, for patients who have genetic diseases which predispose them to the development of hemophagocytic lymphohistiocytosis (HLH), EBV ...
Rebecca A. Marsh
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT The pediatric hematology‐oncology fellowship training curriculum has not substantially changed since its inception. The first year of training is clinically focused, and the second and third years are devoted to scholarship. However, this current structure leaves many fellows less competitive in the current job market, resulting in ...
Scott C. Borinstein +3 more
wiley +1 more source
Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus +6 more
wiley +1 more source
VirusesWith the widespread use of integrase inhibitors and the expanding use of long-acting cabotegravir in both pre-exposure prophylaxis and antiretroviral treatment, molecular surveillance on the transmission of integrase resistance has regained clinical ...
Kaja Mielczak +14 more
doaj +1 more source
カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]
, 2019 博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine +10 more
wiley +1 more source
Research on motor neuron diseases konzo and neurolathyrism : trends from 1990 to 2010 [PDF]
, 2012 Konzo (caused by consumption of improperly processed cassava, Manihot esculenta) and neurolathyrism (caused by prolonged overconsumption of grass pea, Lathyrus sativus) are two distinct non-infectious upper motor neurone diseases with identical clinical ...
Diasolua Ngudi, Delphin +3 more
core +2 more sources