Pediatrics: Genetics and Metabolic Disease Articles
- Achondrogenesis
- Achondroplasia
- Aicardi Syndrome
- Alkaptonuria
- Apert Syndrome
- Arginase Deficiency
- Argininosuccinate Lyase Deficiency
- Arthrogryposis
- Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
- Biotinidase Deficiency
- CHARGE Syndrome
- Carbamoyl Phosphate Synthetase Deficiency
- Cerebrotendinous Xanthomatosis
- Carnitine Deficiency
- Chromosomal Breakage Syndromes
- Citrullinemia
- Cockayne Syndrome
- Cornelia De Lange Syndrome
- Cri-du-chat Syndrome
- Crouzon Syndrome
- Danon Disease
- Denys-Drash Syndrome
- Down Syndrome
- Ehlers-Danlos Syndrome
- Ellis-van Creveld Syndrome
- Fabry Disease
- Fragile X Syndrome
- Fructose 1,6-Diphosphatase Deficiency
- Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
- GM1 Gangliosidosis
- GM2 Gangliosidoses
- Galactokinase Deficiency
- Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
- Gaucher Disease
- Glutathione Synthetase Deficiency
- Glycogen-Storage Disease Type 0
- Glycogen-Storage Disease Type I
- Glycogen-Storage Disease Type II
- Glycogen-Storage Disease Type III
- Glycogen-Storage Disease Type IV
- Glycogen-Storage Disease Type V
- Glycogen-Storage Disease Type VI
- Glycogen-Storage Disease Type VII
- Hereditary Periodic Fever Syndromes
- Holocarboxylase Synthetase Deficiency
- Hyperammonemia
- Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome
- Hyperphenylalaninemia
- Hypochloremic Alkalosis
- Hypophosphatasia
- I-Cell Disease (Mucolipidosis Type II)
- Kearns-Sayre Syndrome
- Klinefelter Syndrome
- Klippel-Trenaunay-Weber Syndrome
- Krabbe Disease
- Lipid Storage Disorders
- Long-Chain Acyl CoA Dehydrogenase Deficiency
- MELAS Syndrome
- Mandibulofacial Dysostosis (Treacher Collins Syndrome)
- Maple Syrup Urine Disease
- Marfan Syndrome
- Meckel-Gruber Syndrome
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Menkes Kinky Hair Disease
- Metachromatic Leukodystrophy
- Methylmalonic Acidemia
- Mucopolysaccharidosis Type I H/S
- Mucopolysaccharidosis Type IH
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type IS
- Mucopolysaccharidosis Type IV
- Mucopolysaccharidosis Type VI
- Mucopolysaccharidosis Type VII
- N-Acetylglutamate Synthetase Deficiency
- Nail-Patella Syndrome
- Neurofibromatosis
- Niemann-Pick Disease
- Noonan Syndrome
- Oculocerebrorenal Dystrophy (Lowe Syndrome)
- Ornithine Transcarbamylase Deficiency
- Osteogenesis Imperfecta
- Patau Syndrome
- Phenylketonuria
- Prader-Willi Syndrome
- Propionic Acidemia (Propionyl CoA Carboxylase Deficiency)
- Proteus Syndrome
- Pyruvate Carboxylase Deficiency
- Pyruvate Dehydrogenase Complex Deficiency
- Rubinstein-Taybi Syndrome
- Sialidosis (Mucolipidosis I)
- Silver-Russell Syndrome
- Sitosterolemia
- Sjögren-Larsson Syndrome
- Skeletal Dysplasia
- Smith-Lemli-Opitz Syndrome
- Sulfite Oxidase Deficiency
- Tetrahydrobiopterin Deficiency
- Thanatophoric Dysplasia
- Trisomy 18
- Tuberous Sclerosis
- Turner Syndrome
- Tyrosinemia
- Waardenburg Syndrome
- Wilson Disease
- Wolf-Hirschhorn Syndrome
- van der Woude Syndrome
- von Hippel-Lindau Disease
Editors & Boards
Editor-in-Chief
- Steven R Neish, MD, SM
Chief Editor
- Bruce A Buehler, MD
Managing Editors
- Leonard G Feld, MD, PhD, MMM
- David Flannery, MD, FAAP, FACMG
- Margaret McGovern, MD, PhD
- Robert Anthony Saul, MD
- Hagop Youssoufian, MSc, MD
Medical Editors
- Uri S Alon, MD
- Erawati V Bawle, MD, FAAP, FACMG
- James Bowman, MD
- Michael Fasullo, PhD
- Edward Kaye, MD
- Ian Krantz, MD
- Christian J Renner, MD
- Karl S Roth, MD
- Robert D Steiner, MD
- Elaine H Zackai, MD
CME Editors
- Paul D Petry, DO, FACOP, FAAP
- Daniel Rauch, MD, FAAP
Pharmacy Editors
- Robert Konop, PharmD
- Mary L Windle, PharmD
Project Editors
- Jennifer Miller
- Liz Huett
- Ryan Syrek
