Results 301 to 310 of about 44,340 (376)
Gaucher disease, state of the art and perspectives
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley +1 more source
Embryology cannot establish the "Protura-sister". [PDF]
Machida R+5 more
europepmc +1 more source
ABSTRACT Background There has been an increase in Mycoplasma pneumoniae infections. This can present with extra‐pulmonary manifestations including mycoplasma‐induced rash and mucositis (MIRM). This paper aims to describe the ocular features in MIRM at a paediatric tertiary referral hospital in Queensland, Australia, and review the treatment and ...
Daniel Cool+4 more
wiley +1 more source
Early human development and stem cell-based human embryo models. [PDF]
Shahbazi MN, Pasque V.
europepmc +1 more source
The scoping review summarizes the current preclinical and clinical evidence for the use of “cell‐free” therapies in craniofacial (periodontal, bone and soft‐tissue) regeneration. It also aims to highlight key challenges and strategies towards the clinical translation of these therapies.
Siddharth Shanbhag+6 more
wiley +1 more source
Placental alkaline phosphatase (PLAP): Is it exclusively placental? [PDF]
Kumar A+8 more
europepmc +1 more source
ABSTRACT Pregnancy is a crucial period during which maternal nutrition, weight and lifestyle behaviours have a direct impact on both maternal and fetal health. This briefing paper describes dietary and lifestyle recommendations for women during the preconceptional period and throughout pregnancy, identifying specific factors that can be modified to ...
Kathryn H. Hart+5 more
wiley +1 more source
The dual role of glucocorticoid regeneration in inflammation at parturition. [PDF]
Ling LJ+8 more
europepmc +1 more source
Ichthyosis Prematurity Syndrome: A Systematic Review of the Literature
ABSTRACT Background/Objectives Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital disorder characterized by premature birth, neonatal respiratory distress, eosinophilia, and a thick, clay‐like vernix at birth. This review aims to summarize the available reported cases of IPS, including genetic etiology, clinical features ...
Grace X. Li+3 more
wiley +1 more source
Temporally resolved early bone morphogenetic protein-driven transcriptional cascade during human amnion specification. [PDF]
Sekulovski N+10 more
europepmc +1 more source