Results 51 to 60 of about 3,489,004 (303)
Recent Advancement of Neurofibromatosis Type 1: A Narrative Review
Acta Neurologica TaiwanicaNeurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin.
Po-Yuan Huang +2 more
doaj +1 more source
Rare disorders of penile erection [PDF]
Fertility and Sterility, 2020 This literature review presents two unusual and mystifying disorders of penile erection: painful nocturnal erections, alternatively termed sleep-related painful erections, and idiopathic stuttering priapism, a variant of recurrent ischemic priapism in which no cause is discernible. The disorders are closely related although they are distinct clinically
openaire +2 more sources
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye +33 more
wiley +1 more source
A Review of Spinocerebellar Ataxias in Taiwan
Acta Neurologica TaiwanicaSpinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous.
Chia-Ju Lee +2 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals.
Krister W. Fjermestad +3 more
doaj +1 more source
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue
Orphanet Journal of Rare Diseases, 2022 Background The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly receive a genetic diagnosis. Nonetheless, the awareness of the chronic course of these conditions,
Elisabetta Indelicato +3 more
doaj +1 more source
Rare chromosome disorders and their developmental consequences [PDF]
, 2009 Professionals working in disability services often encounter clients who have chromosome disorders such as Williams, Angelman or Down syndromes. As chromosome testing becomes increasingly sophisticated, however, more people are being diagnosed with very ...
Gilmore, Linda
core
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source
, 2010 The best known and most common bleeding disorders are Haemophilia A (Factor VIII deficiency), Haemophilia B (Factor IX deficiency) and von Willebrand Disease. However, these do not represent all bleeding disorders.
Irish Haemophilia Society (IHS)
core +2 more sources
Work participation in adults with rare genetic diseases - a scoping review
BMC Public Health, 2023 Background Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health ...
Gry Velvin +6 more
doaj +1 more source