Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]
, 2019 This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S +10 more
core +2 more sources
Hereditary myopathy with early respiratory failure in China: one case report and literatures review
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying +5 more
doaj +1 more source
Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]
, 2015 The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa +6 more
core +2 more sources
α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms
Orphanet Journal of Rare DiseasesBackground α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner.
Maryana Marins +8 more
doaj +1 more source
Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity
Frontiers in Immunology, 2019 The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and diseases from the IUIS report with the use of the OMIM ...
Lyubov E. Salnikova +5 more
doaj +1 more source
A working model for cytoplasmic assembly of H/ACA snoRNPs
FEBS Letters, EarlyView.Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley +1 more source
A perilous path: the inborn errors of sphingolipid metabolism
Journal of Lipid Research, 2019 The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
Teresa M. Dunn +2 more
doaj +1 more source
, 2018 Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core +1 more source
Cardiac manifestations of PRKAG2 mutation. [PDF]
, 2018 BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza +3 more
core +1 more source
Novel and unscrutinized immune entities of the zebrafish gut
FEBS Letters, EarlyView.Understudied cells of the zebrafish immune system include bona fide immune cells and epithelial (‐derived) cells with immune functions. Research focusing on zebrafish cells which demonstrate similarities to mammalian immune cell counterparts may help us understand the pathologies in which they are implicated. Currently available and advanced tools make
Audrey Inge Schytz Andersen‐Civil +5 more
wiley +1 more source