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The aim of this study was to describe the epidemiology of infantile Pompe disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective case records study and a prospective anonymous genotyping in a sample of mothers followed in the two major maternity units of French Guiana.
This article was published in the following journal.
Name: BMJ paediatrics open
Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. The present study described clinical features, genotypes,...
Postpartum hemorrhage remains the leading cause of maternal death in France. Parturients in western French Guiana have specific sociodemographic features and a high rate of pathological pregnancies. T...
Amazonian toxoplasmosis is a recently described form of Toxoplasma gondii infection, characterized by severe clinical and biological features, and involvement of atypical genetic strains circulating t...
Given the great efforts put into the strategic objective of reducing the proportion of HIV-infected patients that are undiagnosed, the aim of the present study was to review the temporal trends betwee...
Penile implants or nodules are objects inserted beneath the skin of the penis mostly for erotic purposes. The procedure is painful and there may be complications. It is often associated with prison. O...
Given the high incidence of Pompe's Disease in French Guiana (100 times higher than in mainland France) the aim is to determine the prevalence of heterozygotes among women having just deli...
Primary Objective: To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index i...
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the ...
Pompe disease is caused by a deficiency of a critical enzyme in the body called acid alpha glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored fo...
An exploratory, open-labeled study of patients with Infantile-Onset Pompe disease to evaluate the efficacy, clinical benefit and safety of prophylactic immunomodulatory regimen of Rituxima...
A republic in the north of South America, bordered on the west by GUYANA (British Guiana) and on the east by FRENCH GUIANA. Its capital is Paramaribo. It was formerly called Netherlands Guiana or Dutch Guiana or Surinam. Suriname was first settled by the English in 1651 but was ceded to the Dutch by treaty in 1667. It became an autonomous territory under the Dutch crown in 1954 and gained independence in 1975. The country was named for the Surinam River but the meaning of that name is uncertain. (From Webster's New Geographical Dictionary, 1988, p1167 & Room, Brewer's Dictionary of Names, 1992, p526)
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
A French overseas department on the northeast coast of South America. Its capital is Cayenne. It was first settled by the French in 1604. Early development was hindered because of the presence of a penal colony. The name of the country and the capital are variants of Guyana, possibly from the native Indian Guarani guai (born) + ana (kin), implying a united and interrelated race of people. (From Webster's New Geographical Dictionary, 1988, p418 & Room, Brewer's Dictionary of Names, 1992, p195)
A country located on the eastern coast of South America, located between Colombia and Peru, that borders the Atlantic Ocean. It is bordered on the north by Venezuela, Guyana, Suriname, and French Guiana, on the south by Uruguay, and on the west by Argentina. The capital is Brasilia.
One of the Indian Ocean Islands off the southeast coast of Africa. Its capital is Antananarivo. It was formerly called the Malagasy Republic. Discovered by the Portuguese in 1500, its history has been tied predominantly to the French, becoming a French protectorate in 1882, a French colony in 1896, and a territory within the French union in 1946. The Malagasy Republic was established in the French Community in 1958 but it achieved independence in 1960. Its name was changed to Madagascar in 1975. (From Webster's New Geographical Dictionary, 1988, p714)