Search Results | Pediatrics | American Academy of Pediatrics

1-20 of 25

Sort by

Sort Order Select

Journal Articles

Executive Functioning of 4 Children With Hyperphenylalaninemia From Childhood to Adolescence

Rachael Sharman, PhD, Karen A. Sullivan, PhD, Toni Jones, PhD, Ross McD. Young, PhD, Jim McGill, MD

Pediatrics (2015) 135 (4): e1072–e1074.

Published: April 2015

View article

Journal Articles

Challenges and Pitfalls in the Management of Phenylketonuria

François Feillet, MD, Francjan J. van Spronsen, PhD, Anita MacDonald, PhD, Friedrich K. Trefz, MD, Mübeccel Demirkol, MD ...

Pediatrics (2010) 126 (2): 333–341.

Published: August 2010

View article

Journal Articles

Maternal Phenylketonuria

Committee on Genetics

Pediatrics (2008) 122 (2): 445–449.

Published: August 2008

View article

Journal Articles

Research Design, Organization, and Sample Characteristics of the Maternal PKU Collaborative Study

Richard Koch, MD, Colleen Azen, MS, Eva Friedman, MS, William Hanley, MD, Harvey Levy, MD ...

Pediatrics (2003) 112 (Supplement_4): 1519–1522.

Published: December 2003

View article

Journal Articles

Cognitive and Behavioral Development in Maternal Phenylketonuria Offspring

Susan E. Waisbren, PhD, Colleen Azen, MS

Pediatrics (2003) 112 (Supplement_4): 1544–1547.

Published: December 2003

View article

Journal Articles

The Maternal Phenylketonuria Project: A Summary of Progress and Challenges for the Future

Joe T.R. Clarke, MD, PhD

Pediatrics (2003) 112 (Supplement_4): 1584–1587.

Published: December 2003

View article

Journal Articles

Potential Role of Tetrahydrobiopterin in the Treatment of Maternal Phenylketonuria

Friedrich K. Trefz, MD, Nenad Blau, PhD

Pediatrics (2003) 112 (Supplement_4): 1566–1569.

Published: December 2003

View article

Journal Articles

Pregnancy Experiences in the Woman With Mild Hyperphenylalaninemia

Harvey L. Levy, MD, Susan E. Waisbren, PhD, Flemming Güttler, MD, PhD, William B. Hanley, MD, Reuben Matalon, MD, PhD ...

Pediatrics (2003) 112 (Supplement_4): 1548–1552.

Published: December 2003

View article

Journal Articles

The Maternal Phenylketonuria International Study: 1984–2002

Richard Koch, MD, William Hanley, MD, Harvey Levy, MD, Kim Matalon, RD, PhD, Reuben Matalon, MD, PhD ...

Pediatrics (2003) 112 (Supplement_4): 1523–1529.

Published: December 2003

View article

Journal Articles

Maternal Phenylketonuria

Committee on Genetics

Pediatrics (2001) 107 (2): 427–428.

Published: February 2001

View article

Journal Articles

Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study

Flemming Güttler, MD, Colleen Azen, MS, Per Guldberg, PhD, Anne Romstad, MS, William B. Hanley, MD ...

Pediatrics (1999) 104 (2): 258–262.

Published: August 1999

View article

Journal Articles

Guanosine Triphosphate Cyclohydrolase I Deficiency: Early Diagnosis by Routine Urine Pteridine Screening

Edwin W. Naylor, David Ennis, A. George F. Davidson, Lawrence T. K. Wong, Derek A. Applegarth ...

Pediatrics (1987) 79 (3): 374–378.

Published: March 1987

View article

Journal Articles

Paternal Hyperphenylalaninemia

Eleanor S. Brown

Pediatrics (1986) 78 (2): 201–205.

Published: August 1986

View article

Journal Articles

Cerebrospinal Fluid Neurotransmitter Metabolites in Neurologically Normal Infants and Children

Philip J. Langlais, Francis X. Walsh, Edward D. Bird, Harvey L. Levy

Pediatrics (1985) 75 (3): 580–586.

Published: March 1985

View article

Journal Articles

Biopterin Synthesis Defects: Problems in Diagnosis

George Hoganson, Stanley Berlow, Seymour Kaufman, Sheldon Milstien, Virginia Schuett ...

Pediatrics (1984) 74 (6): 1004–1011.

Published: December 1984

View article

Journal Articles

More on Newborn Screening for Phenylketonuria: Recommendations of the Committee on Genetics

CHARLES R. SCRIVER

Pediatrics (1983) 72 (1): 141.

Published: July 1983

View article

Journal Articles

Use of Tetrahydropterins in the Treatment of Hyperphenylalaninemia due to Defective Synthesis of Tetrahydrobiopterin: Evidence that Peripherally Administered Tetrahydropterins Enter the Brain

Seymour Kaufman, Gregory Kapatos, Roderick R. Mclnnes, Joseph D. Schulman, William B. Rizzo

Pediatrics (1982) 70 (3): 376–380.

Published: September 1982

View article

Journal Articles

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Enzyme Assays on Dried Blood Spots

Nobuhiro Arai, Kuniaki Narisawa, Hiroshi Hayakawa, Keiya Tada

Pediatrics (1982) 70 (3): 426–430.

Published: September 1982

View article

Journal Articles

Differential Diagnosis of Variant Forms of Hyperphenylalaninemia

Seymour Kaufman

Pediatrics (1980) 65 (4): 840–842.

Published: April 1980

View article

Journal Articles

New Developments in Hyperphenylalaninemia

Donough O'Brien, Stanley Berlow, George Donnell, Parvin Justice, Seymour Kaufman ...

Pediatrics (1980) 65 (4): 844–846.

Published: April 1980

View article

NARROW

Executive Functioning of 4 Children With Hyperphenylalaninemia From Childhood to Adolescence

Challenges and Pitfalls in the Management of Phenylketonuria

Maternal Phenylketonuria

Research Design, Organization, and Sample Characteristics of the Maternal PKU Collaborative Study

Cognitive and Behavioral Development in Maternal Phenylketonuria Offspring

The Maternal Phenylketonuria Project: A Summary of Progress and Challenges for the Future

Potential Role of Tetrahydrobiopterin in the Treatment of Maternal Phenylketonuria

Pregnancy Experiences in the Woman With Mild Hyperphenylalaninemia

The Maternal Phenylketonuria International Study: 1984–2002

Maternal Phenylketonuria

Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study

Guanosine Triphosphate Cyclohydrolase I Deficiency: Early Diagnosis by Routine Urine Pteridine Screening

Paternal Hyperphenylalaninemia

Cerebrospinal Fluid Neurotransmitter Metabolites in Neurologically Normal Infants and Children

Biopterin Synthesis Defects: Problems in Diagnosis

More on Newborn Screening for Phenylketonuria: Recommendations of the Committee on Genetics

Use of Tetrahydropterins in the Treatment of Hyperphenylalaninemia due to Defective Synthesis of Tetrahydrobiopterin: Evidence that Peripherally Administered Tetrahydropterins Enter the Brain

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Enzyme Assays on Dried Blood Spots

Differential Diagnosis of Variant Forms of Hyperphenylalaninemia

New Developments in Hyperphenylalaninemia

Email alerts

Journals

Books

News

Solutions

Policy

Licensing & Permissions

Advertising

Email alerts

Journals

News

Solutions

This Feature Is Available To Subscribers Only