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Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal recessive form (designated ARHP) to chromosome 4q21 and identified homozygous mutations in DMP1 (dentin matrix protein 1), which encodes a non-collagenous bone matrix protein expressed in osteoblasts and osteocytes. Intact plasma levels of the phosphaturic protein FGF23(More)
The aim of this study was to compare heart abnormalities in a group of young women with anorexia nervosa at diagnosis and after weight restoration. A total of 40 young women with anorexia nervosa were evaluated, at baseline, (diagnosis) and follow-up (9 to 18 months later) and matched with 40 healthy women of the same age and of normal weight. QT interval(More)
Heterozygous mutations of the homeobox genes ALX4 and MSX2 cause skull defects termed enlarged parietal foramina (PFM) and cranium bifidum (CB); a single MSX2 mutation has been documented in a unique craniosynostosis (CRS) family. However, the relative mutational contribution of these genes to PFM/CB and CRS is not known and information on(More)
INTRODUCTION AND OBJECTIVES The objective of this study was to compare heart abnormalities in young women with anorexia nervosa and in a control group of the same age and sex. Patients and method. We report a matched case-control study of 30 adolescents with anorexia nervosa and 30 healthy women of the same age with normal weight. An electrocardiogram and(More)
OBJECTIVE To determine prospectively plasma levels of vitamin B12 and folic acid in children with intestinal parasitic infection before and three months after antiparasitic treatment. METHODS 3036 stool samples were collected from 1959 children and 939 cello-tape anal swabs were taken from 688 children for intestinal parasite investigation. Of these, 155(More)
The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies.(More)
Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (NIPBL, SMC1A, and SMC3) of the cohesin complex and its regulators have been found in affected patients. Here, we present clinical and molecular characterization of 30 unrelated patients with CdLS. Eleven(More)
Osteogenesis imperfecta one of the most common disorders of connective tissue, has been known for centuries. The most characteristic alterations which define it are: osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Important advances in the biochemical, anatomopathological, genetic, therapeutic(More)
Parasitic infections are highly prevalent in the general population. A relation between a parasitic infection and absorption of minerals is not an easy task. Serum levels of copper, zinc and magnesium were prospectively measured in 64 children with intestinal parasitic infection. Thirty-nine children with Enterobius vermicularis were treated with pyrantel(More)
OBJECTIVE To try to improve the International Obesity Task Force (IOTF) BMI cut-off values, in terms of prediction of body fat percentage assessed by dual-energy X-ray absorptiometry (DXA), in adolescents. METHODS Cross-sectional survey of the adolescents from the city of Zaragoza (Spain). For this analysis we have included 286 adolescents (116 boys and(More)