Search Results - "Badoe, Eben"
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A critical review of child abuse and its management in Africa
Published in African Journal of Emergency Medicine (2017)“…Child abuse in Africa is a major threat to the achievement of the sustainable development goals on the continent and has become increasingly topical with a…”
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Noonan syndrome in diverse populations
Published in American journal of medical genetics. Part A (01-09-2017)“…Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well…”
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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Published in Orphanet journal of rare diseases (21-04-2021)“…CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of…”
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An Overview of the Effect and Epidemiology of Viral Central Nervous System Infections in African Children
Published in Seminars in pediatric neurology (01-03-2014)“…Viral infections in Africa are common. Polio still persists in the continent despite vaccination campaigns. Many of the common viral infections, such as by the…”
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Autism Spectrum Disorders in Africa: Current Challenges in Identification, Assessment, and Treatment: A Report on the International Child Neurology Association Meeting on ASD in Africa, Ghana, April 3-5, 2014
Published in Journal of child neurology (01-07-2016)“…Prevalence of autism spectrum disorders has increased over recent years, however, little is known about the identification and management of autism spectrum…”
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Williams–Beuren syndrome in diverse populations
Published in American journal of medical genetics. Part A (01-05-2018)“…Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in…”
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Cornelia de Lange syndrome in diverse populations
Published in American journal of medical genetics. Part A (01-02-2019)“…Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes—NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The…”
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Turner syndrome in diverse populations
Published in American journal of medical genetics. Part A (01-02-2020)“…Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we…”
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Child Neurology Services in Africa
Published in Journal of Child Neurology (01-12-2011)“…The first African Child Neurology Association meeting identified key challenges that the continent faces to improve the health of children with neurology…”
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Book Review Journal Article -
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Cover Image, Volume 173A, Number 9, September 2017
Published in American journal of medical genetics. Part A (01-09-2017)“…The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit:…”
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First Application of Ketogenic Diet on a Child With Intractable Epilepsy in Ghana
Published in Child neurology open (01-07-2015)“…The prevalence of epilepsy in sub-Saharan Africa is higher than in other parts of the world, but it is short of the effective measure on treating intractable…”
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Cover Image, Volume 176A, Number 5, May 2018
Published in American journal of medical genetics. Part A (01-05-2018)Get full text
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