Search Results - "Wappner, R S"

Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase by Kaplan, Paige, Mazur, Alice, Manor, Orly, Charrow, Joel, Esplin, Joan, Gribble, T.John, Wappner, Rebecca S., Wisch, Jeffrey S., Weinreb, Neal J.

“…OBJECTIVES: The incidence and severity of growth retardation in children with type 1 Gaucher disease and the response to enzyme replacement therapy with…”
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Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance by Caldemeyer, K S, Boaz, J C, Wappner, R S, Moran, C C, Smith, R R, Quets, J P

“…To evaluate for an association between familial hypophosphatemic rickets (FHR) and Chiari I malformation (CM1). Sixteen patients with FHR underwent magnetic…”
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Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature by PETTENATI, M. J, HAINES, J. L, HIGGINS, R. R, WAPPNER, R. S, PALMER, C. G, WEAVER, D. D

“…The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus…”
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Variable clinical presentation in three patients with 3‐methylglutaconyl‐coenzyme A hydratase deficiency by Gibson, K. M., Wappner, R. S., Jooste, S., Erasmus, E., Mienie, L. J., Gerlo, E., Desprechins, B., De Meirleir, L.

“…3‐Methylglutaconyl‐coenzyme A (3‐MG‐CoA) hydratase deficiency (type I 3‐methylglutaconic aciduria), a rare defect of L‐leucine catabolism, has previously been…”
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Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families by WEXLER, I. D, KERR, D. S, YUEFEN DU, KAUNG, M. M, STEPHENSON, W, LUSK, M. M, WAPPNER, R. S, HIGGINS, J. J

“…Pyruvate carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate. Children with inborn errors of PC…”
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3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium by Gibson, KM, Hoffmann, G, Schwall, A, Broock, RL, Aramaki, S, Sweetman, L, Nyhan, WL, Brandt, IK, Wappner, RS, Lehnert, W

“…3-Hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase activity was measured in extracts of cultured fibroblasts derived from patients with mevalonate…”
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PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS by NADA, MOHAMED A., VIANEY-SABAN, CHRISTINE, ROE, CHARLES R., DING, JIA-HUAN, MATHIEU, MONIQUE, WAPPNER, REBECCA S., BIALER, MARTIN G., MCGLYNN, JULIE A., MANDON, GINETTE

“…Amniocytes isolated from two pregnancies at risk for fatty acid oxidation defects were incubated with stable isotopically labelled palmitate, in the presence…”
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Folic Acid for the Prevention of Neural Tube Defects by Desposito, Franklin, Cunniff, Christopher, Frias, Jaime L, Panny, Susan R

“…The American Academy of Pediatrics endorses the US Public Health Service (USPHS) recommendation that all women capable of becoming pregnant consume 400 μg of…”
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Biochemical diagnosis of genetic diseases by Wappner, R S

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3-methylglutaconyl-coenzyme-A hydratase deficiency : a new case by GIBSON, K. M, LEE, C. F, WAPPNER, R. S

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The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease by Charrow, J, Andersson, H C, Kaplan, P, Kolodny, E H, Mistry, P, Pastores, G, Rosenbloom, B E, Scott, C R, Wappner, R S, Weinreb, N J, Zimran, A

“…The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of the…”
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Gaucher disease: recommendations on diagnosis, evaluation, and monitoring by Charrow, J, Esplin, J A, Gribble, T J, Kaplan, P, Kolodny, E H, Pastores, G M, Scott, C R, Wappner, R S, Weinreb, N J, Wisch, J S

“…Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable patients and…”
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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake by Stanley, C A, DeLeeuw, S, Coates, P M, Vianey-Liaud, C, Divry, P, Bonnefont, J P, Saudubray, J M, Haymond, M, Trefz, F K, Breningstall, G N

“…A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this…”
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3‐methylglutaconyl‐coenzyme‐A hydratase deficiency: A new case by Gibson, K. M., Lee, C. F., Wappner, R. S.

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Health Supervision for Children With Marfan Syndrome by Committee on Genetics

“…This set of guidelines is designed to assist the pediatrician in caring for children with Marfan syndrome confirmed by clinical criteria. Although…”
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Health Supervision for Children With Achondroplasia by Seashore, Margretta R, Cho, Sechin, Desposito, Franklin, Sherman, Jack

“…This set of guidelines is designed to assist the pediatrician in caring for children with achondroplasia confirmed by radiographs and physical features…”
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Health Supervision for Children With Down Syndrome by Sherman, Jack, Wappner, Rebecca S, Wilson, Miriam G, Seashore, Margretta R

“…These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype…”
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Health Supervision for Children With Neurofibromatosis by Committee on Genetics, 1994 to 1995

“…This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of neurofibromatosis has been made. Although the…”
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Health supervision for children with Turner syndrome by Seashore, Margretta R, Cho, Sechin, Desposito, Franklin, Sherman, Jack

“…This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotype…”
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7q deletion syndrome (7q32 leads to 7qter) by Harris, E L, Wappner, R S, Palmer, C G, Hall, B, Dinno, N, Seashore, M R, Breg, W R

“…Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of…”
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