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Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.
Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS. Yang-Li D, et al. Orphanet J Rare Dis. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. Orphanet J Rare Dis. 2022. PMID: 35698200 Free PMC article. Review.
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by sever …
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally in …
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Hoffmann GF, et al. Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. Neuropediatrics. 1996. PMID: 8837070
SUBJECTS AND METHODS: We conducted a retrospective analysis of 57 patients with proven GDD-relating appearance and severity of neurological disease to age and clinical status at diagnosis, glutaric acid levels in body fluids, and different treatment regimens. ...In …
SUBJECTS AND METHODS: We conducted a retrospective analysis of 57 patients with proven GDD-relating appearance and severity of neurol …
Survivors of extracorporeal membrane oxygenation at 1 year of age: the relationship of primary diagnosis with health and neurodevelopmental sequelae.
Bernbaum J, Schwartz IP, Gerdes M, D'Agostino JA, Coburn CE, Polin RA. Bernbaum J, et al. Pediatrics. 1995 Nov;96(5 Pt 1):907-13. Pediatrics. 1995. PMID: 7478834
The reasons for these differences are unclear but may be related to the severity of the primary illness itself or the variables associated with prolonged ECMO therapy. Stratifying outcome by primary diagnosis gives the health care provider more information to …
The reasons for these differences are unclear but may be related to the severity of the primary illness itself or the variables assoc …
Effect of botulinum a toxin in the treatment of voiding dysfunction due to detrusor underactivity.
Kuo HC. Kuo HC. Urology. 2003 Mar;61(3):550-4. doi: 10.1016/s0090-4295(02)02541-4. Urology. 2003. PMID: 12639645
METHODS: Twenty patients with chronic urinary retention (n = 13) or severe dysuria (n = 7) received 50 U of botulinum A toxin by urethral injection. ...The other 7 patients with difficult urination had significant improvement in the obstructive symptom score (18 +/- …
METHODS: Twenty patients with chronic urinary retention (n = 13) or severe dysuria (n = 7) received 50 U of botulinum A toxin by uret …