Scholars@Duke
Nancy Eisenberg Friedman

Nancy Eisenberg Friedman

Associate Professor Emerita of Pediatrics
Pediatrics, Endocrinology

Scholarly Works

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

Journal article J Clin Endocrinol Metab · October 2006 CONTEXT: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and rickets/osteomalacia with increased serum 1,25-dihydroxyvitamin D [1,25-(OH)(2)D] resulting in hypercalciuria. OBJEC ... Full text Link to item Cite

Insulin pump therapy in toddlers and preschool children with type 1 diabetes mellitus.

Journal article J Pediatr · October 2002 Featured Publication OBJECTIVE: To test whether glycemic control in young children could be achieved more effectively and safely by using continuous insulin infusions administered by insulin pumps. STUDY DESIGN: We analyzed the effects of pump therapy in nine toddlers in whom ... Full text Link to item Cite

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

Journal article J Clin Endocrinol Metab · October 1998 Featured Publication Previous investigators described a kindred with an X-linked dominant form of phosphate wasting in which affected children did not have radiographic evidence of rickets, whereas older individuals were progressively disabled by severe bowing. They proposed t ... Full text Link to item Cite

Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia.

Journal article J Clin Endocrinol Metab · April 1993 Featured Publication Patients with X-linked hypophosphatemic rickets exhibit clinically evident derangements that include bowed legs and short stature. Although contemporary treatment may result in healing of the rachitic/osteomalacic disorder and straightening of the lower ex ... Full text Link to item Cite

X-linked hypophosphatemic rickets without "rickets".

Journal article Skeletal Radiol · 1991 Featured Publication Wrist and knee radiographs from children with X-linked hypophosphatemic rickets were analyzed and compared with those from normal children and children with established rickets to assess whether radiographically apparent rickets is a consistent abnormality ... Full text Link to item Cite

Correlations of serum concentrations of 1,25-dihydroxyvitamin D, phosphorus, and parathyroid hormone in tumoral calcinosis.

Journal article J Clin Endocrinol Metab · July 1988 Featured Publication The inherited metabolic disorder tumoral calcinosis is characterized by elevated serum phosphorus and 1,25-dihydroxyvitamin D [1,25-(OH)2D] levels and paraarticular calcific tumors. The pathogenesis of this disease is obscure, but an elevated renal phospha ... Full text Link to item Cite

Sexual precocity in girls. An association with sexual abuse?

Journal article Am J Dis Child · April 1988 Featured Publication The development of secondary sexual characteristics before 8 years of age in girls is uncommon and little is known of its epidemiology. In a retrospective study of a population of 105 girls 10 years old and younger who were victims of confirmed or suspecte ... Full text Link to item Cite

Calcification of entheses associated with X-linked hypophosphatemic osteomalacia.

Journal article N Engl J Med · July 4, 1985 Featured Publication We undertook a retrospective analysis of 26 patients with X-linked hypophosphatemic osteomalacia (or rickets), whose ages ranged from 1 to 62 years and who were from 11 different kindreds, to determine the prevalence and clinical characteristics of a uniqu ... Full text Link to item Cite

Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol.

Journal article J Clin Invest · June 1985 Featured Publication Although conventional therapy (pharmacologic doses of vitamin D and phosphorus supplementation) is usually successful in healing the rachitic bone lesion in patients with X-linked hypophosphatemic rickets, it does not heal the coexistent osteomalacia. Beca ... Full text Link to item Cite

Features for patients. See how they grow.

Journal article N C Med J · November 1983 Featured Publication Link to item Cite

Echocardiographic evidence for impaired myocardial performance in children with type I diabetes mellitus.

Journal article Am J Med · December 1982 Featured Publication Thirty-three children with type I diabetes mellitus and 51 normal children underwent M-mode echocardiography. Abnormalities of myocardial performance were present in many of the diabetic children. The mean end-systolic volume of the left ventricle was grea ... Full text Link to item Cite

Choanal atresia and associated anomalies.

Journal article J Pediatr · June 1980 Featured Publication Full text Link to item Cite