R. Wappner

发表

Folic Acid for the Prevention of Neural Tube Defects

C. Moore, B. Pletcher, C. Cunniff, 1999, Pediatrics.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

P. Kaplan, J. Charrow, H. Andersson, 2002, The American journal of medicine.

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.

P. Kaplan, J. Charrow, H. Andersson, 2000, Archives of internal medicine.

Biochemical diagnosis of genetic diseases.

R. Wappner, 1993, Pediatric annals.

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.

P. Kaplan, J. Charrow, C. Scott, 1998, Archives of internal medicine.

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

P. Kaplan, J. Charrow, H. Andersson, 2004, Seminars in hematology.

Individualization of long-term enzyme replacement therapy for Gaucher disease

P. Kaplan, J. Charrow, H. Andersson, 2005, Genetics in Medicine.

Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease

P. Kaplan, J. Charrow, H. Andersson, 2013 .

Newborn screening fact sheets

F. Desposito, J. Frías, R. Wappner, 1996 .

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Arslanian, P. Kaplan, J. Charrow, 2004, The Journal of pediatrics.

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

K. Gibson, G. Hoffmann, R. Wappner, 1986, The New England journal of medicine.

Sequence of the El a Subunit of Branched-Chain a-Ketoacid Dehydrogenase in Two Patients with Thiamine-responsive Maple Syrup Urine Disease

D. Crabb, R. Wappner, Bei Zhang, 2006 .

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

D. Valle, C. Stanley, P. Divry, 1991, Annals of neurology.

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.

K. Gibson, W. Nyhan, G. Hoffmann, 1990, Journal of lipid research.

Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance.

R. R. Smith, K. Caldemeyer, R. Wappner, 1995, Radiology.

Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis

K. Gibson, W. Nyhan, G. Hoffmann, 1987, Journal of Inherited Metabolic Disease.

Molecular Characterization of Pyruvate Carboxylase Deficiency in Two Consanguineous Families

D. Kerr, William Stephenson, J. Higgins, 1997, Pediatric Research.

The Chicago variant of clinical galactosemia

C. M. Chacko, R. Wappner, H. Nadler, 1977, Human Genetics.

Peritoneal dialysis in the first 60 days of life.

D. E. Matthews, D. Vane, J. Bergstein, 1990, Journal of pediatric surgery.

Development of guidelines for treatment of children with phenylketonuria: report of a meeting at the National Institute of Child Health and Human Development held August 15, 1995, National Institutes of Health, Bethesda, Maryland.

M. Seashore, R. Wappner, S. Cho, 1999, Pediatrics.

Disorders of Leucine Metabolism

K. Gibson, R. Wappner, 2003 .

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

M. Bialer, C. Roe, R. Wappner, 1996, Prenatal diagnosis.

Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase.

O Manor, P. Kaplan, J. Charrow, 1996, The Journal of pediatrics.

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

J. Haines, D. Weaver, R. Wappner, 1986, Human Genetics.

A NEW VARIANT OF GALACTOSEMIA

C. M. Chacko, R. Wappner, H. Nadler, 1974, Pediatric Research.

Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.

M. Pericak-Vance, R. Elston, J. Vance, 1980, American journal of medical genetics.

Keratan and heparan sulphaturia: a mucopolysaccharidosis with an enzyme defect not previously identified

R. Wappner, R. Matalon, A. Horwitz, 1982, Journal of Inherited Metabolic Disease.

540 A KERATAN AND HEPARAN SULFATURIA - A NEW MUCOPOLYSAC- CHARIDOSIS WITH N-ACETYLGLUCOSAMINE 6− SULFATASE DEFICIENCY

R. Wappner, R. Matalon, I. Rosenthal, 1978, Pediatric Research.

Keratan and herparan sulfaturia: glucosamine-6-sulfate deficiency.

R. Wappner, R. Matalon, A. Horwitz, 1982, Annals of clinical and laboratory science.

Hurler Syndrome: α-L-Iduronidase Activity in Leukocytes as a Method for Heterozygote Detection

R. Wappner, I. Brandt, 1976, Pediatric Research.

Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?

R. Ward, D. Goldstein, R. Wappner, 1988, American journal of medical genetics.

Update: Lowe's syndrome.

R. Wappner, 1987, Comprehensive therapy.

7q deletion syndrome (7q32 leads to 7qter).

M. Seashore, E. Harris, W. R. Breg, 1977, Clinical genetics.

Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.

K. Gibson, W. Nyhan, G. Hoffmann, 1989, Enzyme.

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency

L. de Meirleir, K. Gibson, E. Gerlo, 1998, Journal of Inherited Metabolic Disease.

Prenatal Genetic Diagnosis for Pediatricians

M. Seashore, F. Desposito, R. Wappner, 1994, Pediatrics.

Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors.

R A Kronmal, R. Kronmal, M. Seashore, 1999, Pediatrics.

Pyruvate carboxylase deficiency--insights from liver transplantation.

R. Naviaux, W. Nyhan, R. Haas, 2002, Molecular genetics and metabolism.

Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.

D. Crabb, R. Wappner, Bei Zhang, 1990, American journal of human genetics.

Genetics in Primary Care & Clinical Medicine

M. Seashore, R. Wappner, 1996, Nature Medicine.

An artifact in the gas chromatographic analysis of urinary organic acids from phenylketonuric children: decarboxylation of the phenylpyruvic acid during extraction.

R. Wappner, I. Brandt, R. M. Thompson, 1975, Clinica chimica acta; international journal of clinical chemistry.

7q deletion syndrome (7q32→7qter)

W. R. Breg, M. Seashore, R. Wappner, 1977 .