This letter discusses an initiative that considered the rights of a child living with a rare disease in the context of the United Nations Convention on the Rights of the Child (UNCRC). The aim was to inform laypeople on the intersection between the UNCRC and rare and undiagnosed diseases. ...
Journal of Pediatric Neurosciences, Journal of Pediatric Neurology and Medicine, Pediatrics & Therapeutics, Pediatric Infectious Disease, The Pediatric Infectious Disease Journal, Journal of the Pediatric Infectious Diseases Society, Archives of Disease in Childhood, Journal of Pediatric Infectious Diseases ...
Lantos JD. Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease. Dev Disabil Res Rev 2011;17(1):15-18Lantos JD. Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease. Dev Disabil Res Rev ...
Childhood dementia comprises a group of devastating, predominantly neurodegenerative conditions, characterised by global and progressive neurocognitive decline, relative loss of developmental skills, as well as a shortened life expectancy in infants, children, and adolescents [1]. Whilst individually rare, s...
Now, the boy has his disease under control with the oral drug L-carnitine. He can go to kindergarten and enjoy his childhood like other children. There are more than 7,000 rare diseases and 350 million related patients worldwide. About 80 percent of rare diseases are hereditary, and some ...
Childhood leukemia constitutes less than two percent of all cancers and many of chemotherapy's other successes were in diseases so rare that many clinicians had never even seen a single case — Ralph W. Moss 3 A disease which new and obscure to you, Doctor, will be known only after ...
A child’s first step is a major milestone, but this moment is not guaranteed for those with rare neurological diseases affecting nerve signalling, muscle growth and other developmental processes. “Some neurologic diseases have a catastrophic impact on children’s lives,” says J. Paul Taylor, ...
Rare childhood diseases: how should we respond? Arch Dis Child. 2008;93(12):1071–1074. 6. Anderson M, Elliott E, Zurynski Y. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. 2013;8(1):...
Research into rare diseases of childhood. JAMA. 2014;311:1729–30. https://doi.org/10.1001/jama.2013.285873. Article CAS PubMed PubMed Central Google Scholar Forman J, Taruscio D, Llera VA, Barrera LA, Coté TR, Edfjäll C, Gavhed D, Haffner ME, Nishimura Y, Posada M, Tambuyzer...
(during gestation or at birth: perinatal hypophosphatasia; before the first 6 months of life: infantile hypophosphatasia; onset ≥6 months to 18 years of age; childhood hypophosphatasia; after 18 years of age: adult hypophosphatasia), according to the classification proposed by Fraser et al.115and...