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Drugs and Diseases
Articles on
Pediatrics: Genetics and Metabolic Disease
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Genetics
Achondrogenesis
Aicardi Syndrome
Apert Syndrome
Arthrogryposis
Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
CHARGE Syndrome
Cerebrotendinous Xanthomatosis
Chromosomal Breakage Syndromes
Cornelia De Lange Syndrome
Cri-du-chat Syndrome
Danon Disease
Down Syndrome
Ellis-van Creveld Syndrome
Fragile X Syndrome
Genetics of Achondroplasia
Genetics of Cockayne Syndrome
Genetics of Crouzon Syndrome
Genetics of Ehlers-Danlos Syndrome
Genetics of Fabry Disease
Genetics of Klippel-Trenaunay-Weber Syndrome
Genetics of Marfan Syndrome
Genetics of Nail-Patella Syndrome
Genetics of Neurofibromatosis Type 1 and Type 2
Genetics of Osteogenesis Imperfecta
Genetics of Proteus Syndrome
Genetics of Rubinstein-Taybi Syndrome
Genetics of Sjogren-Larsson Syndrome
Genetics of Tuberous Sclerosis
Genetics of Waardenburg Syndrome
Holoprosencephaly
Kearns-Sayre Syndrome
Klinefelter Syndrome
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Meckel-Gruber Syndrome
Noonan Syndrome
Patau Syndrome
Prader-Willi Syndrome
Silver-Russell Syndrome
Skeletal Dysplasia
Smith-Lemli-Opitz Syndrome
Sphingomyelinase Deficiency
Thanatophoric Dysplasia
Trisomy 18
Turner Syndrome
Wolf-Hirschhorn Syndrome
van der Woude Syndrome
Metabolic Disease
Alkaptonuria
Arginase Deficiency
Argininosuccinate Lyase Deficiency
Biotinidase Deficiency
Carbamoyl Phosphate Synthetase Deficiency
Carnitine Deficiency
Citrullinemia
Denys-Drash 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
Genetics of Glycogen-Storage Disease Type I
Genetics of Glycogen-Storage Disease Type II (Pompe Disease)
Genetics of Glycogen-Storage Disease Type III
Genetics of Glycogen-Storage Disease Type IV
Genetics of Glycogen-Storage Disease Type V
Genetics of Glycogen-Storage Disease Type VI
Genetics of Glycogen-Storage Disease Type VII
Genetics of Hyperammonemia
Genetics of Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome
Genetics of Menkes Kinky Hair Disease
Genetics of Methylmalonic Acidemia
Genetics of Mucopolysaccharidosis Type I
Genetics of Mucopolysaccharidosis Type II
Genetics of Mucopolysaccharidosis Type III
Genetics of Mucopolysaccharidosis Type IV
Genetics of Mucopolysaccharidosis Type VI
Genetics of Mucopolysaccharidosis Type VII
Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency)
Genetics of Pyruvate Carboxylase Deficiency
Glutathione Synthetase Deficiency
Glycogen-Storage Disease Type 0
Hereditary Periodic Fever Syndromes
Holocarboxylase Synthetase Deficiency
Hyperphenylalaninemia
Hypochloremic Alkalosis
Hypophosphatasia
I-Cell Disease (Mucolipidosis Type II)
Krabbe Disease
Lipid Storage Disorders
Long-Chain Acyl CoA Dehydrogenase Deficiency
MELAS Syndrome
Macrocephaly
Maple Syrup Urine Disease
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Metachromatic Leukodystrophy
Microcephaly
N-Acetylglutamate Synthetase Deficiency
Oculocerebrorenal Dystrophy (Lowe Syndrome)
Ornithine Transcarbamylase Deficiency
Phenylketonuria
Pyruvate Dehydrogenase Complex Deficiency
Sialidosis (Mucolipidosis I)
Sitosterolemia
Sulfite Oxidase Deficiency
Tetrahydrobiopterin Deficiency
Tyrosinemia
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Achondrogenesis
Aicardi Syndrome
Alkaptonuria
Apert Syndrome
Arginase Deficiency
Argininosuccinate Lyase Deficiency
Arthrogryposis
Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
Biotinidase Deficiency
CHARGE Syndrome
Carbamoyl Phosphate Synthetase Deficiency
Carnitine Deficiency
Cerebrotendinous Xanthomatosis
Chromosomal Breakage Syndromes
Citrullinemia
Cornelia De Lange Syndrome
Cri-du-chat Syndrome
Danon Disease
Denys-Drash Syndrome
Down Syndrome
Ellis-van Creveld Syndrome
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
Genetics of Achondroplasia
Genetics of Cockayne Syndrome
Genetics of Crouzon Syndrome
Genetics of Ehlers-Danlos Syndrome
Genetics of Fabry Disease
Genetics of Glycogen-Storage Disease Type I
Genetics of Glycogen-Storage Disease Type II (Pompe Disease)
Genetics of Glycogen-Storage Disease Type III
Genetics of Glycogen-Storage Disease Type IV
Genetics of Glycogen-Storage Disease Type V
Genetics of Glycogen-Storage Disease Type VI
Genetics of Glycogen-Storage Disease Type VII
Genetics of Hyperammonemia
Genetics of Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome
Genetics of Klippel-Trenaunay-Weber Syndrome
Genetics of Marfan Syndrome
Genetics of Menkes Kinky Hair Disease
Genetics of Methylmalonic Acidemia
Genetics of Mucopolysaccharidosis Type I
Genetics of Mucopolysaccharidosis Type II
Genetics of Mucopolysaccharidosis Type III
Genetics of Mucopolysaccharidosis Type IV
Genetics of Mucopolysaccharidosis Type VI
Genetics of Mucopolysaccharidosis Type VII
Genetics of Nail-Patella Syndrome
Genetics of Neurofibromatosis Type 1 and Type 2
Genetics of Osteogenesis Imperfecta
Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency)
Genetics of Proteus Syndrome
Genetics of Pyruvate Carboxylase Deficiency
Genetics of Rubinstein-Taybi Syndrome
Genetics of Sjogren-Larsson Syndrome
Genetics of Tuberous Sclerosis
Genetics of Waardenburg Syndrome
Glutathione Synthetase Deficiency
Glycogen-Storage Disease Type 0
Hereditary Periodic Fever Syndromes
Holocarboxylase Synthetase Deficiency
Holoprosencephaly
Hyperphenylalaninemia
Hypochloremic Alkalosis
Hypophosphatasia
I-Cell Disease (Mucolipidosis Type II)
Kearns-Sayre Syndrome
Klinefelter Syndrome
Krabbe Disease
Lipid Storage Disorders
Long-Chain Acyl CoA Dehydrogenase Deficiency
MELAS Syndrome
Macrocephaly
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Maple Syrup Urine Disease
Meckel-Gruber Syndrome
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Metachromatic Leukodystrophy
Microcephaly
N-Acetylglutamate Synthetase Deficiency
Noonan Syndrome
Oculocerebrorenal Dystrophy (Lowe Syndrome)
Ornithine Transcarbamylase Deficiency
Patau Syndrome
Phenylketonuria
Prader-Willi Syndrome
Pyruvate Dehydrogenase Complex Deficiency
Sialidosis (Mucolipidosis I)
Silver-Russell Syndrome
Sitosterolemia
Skeletal Dysplasia
Smith-Lemli-Opitz Syndrome
Sphingomyelinase Deficiency
Sulfite Oxidase Deficiency
Tetrahydrobiopterin Deficiency
Thanatophoric Dysplasia
Trisomy 18
Turner Syndrome
Tyrosinemia
Wolf-Hirschhorn Syndrome
van der Woude Syndrome
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Chief Editors
Maria Descartes, MD
Luis O Rohena, MD, MS, FAAP, FACMG