Zobrazeno 1 - 10
of 36
pro vyhledávání: '"V. H. W. Dissanayake"'
Autor:
T. Nitharshan, T. Kumanan, N. D. Sirisena, G. Anandagoda, V. H. W. Dissanayake, S. Navaneethakrishnan, V. Sujanitha, V. Sutharhan, N. Mathangi
Publikováno v:
Sri Lanka Journal of Medicine, Vol 32, Iss 2, Pp 69-73 (2023)
A 27-year-old Sri Lankan man with Neurofibromatosis-1 (NF-1) [MIM:162200] who presented with vague abdominal pain associated with loss of weight and appetite for 1-year duration is described. He had multiple cutaneous neurofibromas, café-au-lait mac
Externí odkaz:
https://doaj.org/article/14238b048be944a3baca1d90e84e4b34
Autor:
M. C. P. Madurapperuma, R . B. A. T. Dulanjalie, T. M. H. M. Thennakoon, K. W. Gunawardena, W. W. L. A. Jayanaga, V. H. W. Dissanayake
Publikováno v:
Asian Journal of Internal Medicine, Vol 2, Iss 2 (2023)
Hereditary spherocytosis (HS) refers to a group of autosomal dominantly inherited heterogeneous hereditary haemolytic anaemias (HHA). Significant iron overload in HS is uncommon. Iron overload has been described as a complication of HS when there is
Externí odkaz:
https://doaj.org/article/4051818d96a0451e8d1738e3c9e8b2dd
Autor:
D. Hettiarachchi, S. M. V. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Background Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly
Externí odkaz:
https://doaj.org/article/72a59a5178154c6f93bc26ab0e71bcc9
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene loca
Externí odkaz:
https://doaj.org/article/9d202b3238844f71ad11b471453386fa
Autor:
D. Hettiarachchi, V. H. W. Dissanayake
Publikováno v:
BMC Research Notes, Vol 12, Iss 1, Pp 1-4 (2019)
Abstract Objective To describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown. Results Twenty patients from eightee
Externí odkaz:
https://doaj.org/article/fc26cd91c7f84b25aa9a4c0b581829d0
Publikováno v:
Journal of Nutrition and Metabolism, Vol 2021 (2021)
Dietary interventions are now being used as an adjunct therapy in the treatment of rare diseases. One such method is the high-fat, moderate-protein, and very low-carbohydrate diet which produces ketosis and therefore called the ketogenic diet. Some o
Externí odkaz:
https://doaj.org/article/711232af3dd2455386f870851bc06797
Autor:
D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginnin
Externí odkaz:
https://doaj.org/article/96286ec53a37456d84e95927ac71af37
Autor:
Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-4 (2018)
Abstract Background Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalanges, radioulnar synost
Externí odkaz:
https://doaj.org/article/4ed20d34c5a449378d3ff5afdad52a29
Autor:
C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-10 (2018)
Abstract Background Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterizatio
Externí odkaz:
https://doaj.org/article/49c013a1608c4f63a2e5bf15408c4e5e
Autor:
C. S. Paththinige, J. R. D. K. Rajapakse, G. R. Constantine, K. P. Sem, R. R. Singaraja, R. W. Jayasekara, V. H. W. Dissanayake
Publikováno v:
Lipids in Health and Disease, Vol 17, Iss 1, Pp 1-7 (2018)
Abstract Background Hypercholesterolemia is a major determinant of cardiovascular disease-associated morbidity and mortality. Mutations in the LDL-receptor (LDLR) gene are implicated in the majority of the cases with familial hypercholesterolemia (FH
Externí odkaz:
https://doaj.org/article/bdd367da016249549c5d5e162d07cd0f