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Drugs and Diseases
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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 (CTX)
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 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
Proteus 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 (Black Urine Disease)
Arginase Deficiency
Argininosuccinate Lyase (ASL) Deficiency
BH4 Deficiency (Tetrahydrobiopterin Deficiency)
Biotinidase Deficiency
Carbamoyl Phosphate Synthetase (CPS) Deficiency
Carnitine Deficiency
Citrullinemia
Denys-Drash Syndrome
Fructose 1,6-Diphosphatase Deficiency
GM1 Gangliosidosis
GM2 Gangliosidoses
Galactokinase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Gaucher Disease
Genetics of Glycogen Storage Disease Type VI (Hers Disease)
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 (McArdle Disease)
Genetics of Hyperammonemia
Genetics of Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH) Syndrome
Genetics of Menkes Kinky Hair Disease
Genetics of Methylmalonic Acidemia
Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency)
Genetics of Pyruvate Carboxylase Deficiency
Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)
Genetics of von Gierke Disease (Glycogen-Storage Disease Type 1)
Glutathione Synthetase Deficiency
Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency)
Hereditary Fructose Intolerance (HFI) (Fructose 1-Phosphate Aldolase Deficiency)
Hereditary Periodic Fever Syndromes
Holocarboxylase Synthetase Deficiency
Hunter Syndrome (Mucopolysaccharidosis Type II)
Hurler Syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I)
Hyperphenylalaninemia
Hypochloremic Alkalosis
Hypophosphatasia (HPP)
Inclusion-Cell (I-Cell) Disease (Mucolipidosis Type II)
Krabbe Disease
Lipid Storage Disorders
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
MELAS Syndrome
Macrocephaly
Maple Syrup Urine Disease (MSUD)
Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI)
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD)
Metachromatic Leukodystrophy
Microcephaly
Morquio Syndrome (Mucopolysaccharidosis Type IV)
N-Acetylglutamate Synthetase Deficiency
Oculocerebrorenal Dystrophy (Lowe Syndrome)
Ornithine Transcarbamylase (OTC) Deficiency
Phenylketonuria (PKU)
Pyruvate Dehydrogenase Deficiency (PDCD)
Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
Sialidosis (Mucolipidosis I)
Sitosterolemia (Phytosterolemia)
Sly Syndrome (Mucopolysaccharidosis Type VII)
Sulfite Oxidase Deficiency and Molybdenum Cofactor Deficiency
Tyrosinemia
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Achondrogenesis
Aicardi Syndrome
Alkaptonuria (Black Urine Disease)
Apert Syndrome
Arginase Deficiency
Argininosuccinate Lyase (ASL) Deficiency
Arthrogryposis
Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
BH4 Deficiency (Tetrahydrobiopterin Deficiency)
Biotinidase Deficiency
CHARGE Syndrome
Carbamoyl Phosphate Synthetase (CPS) Deficiency
Carnitine Deficiency
Cerebrotendinous Xanthomatosis (CTX)
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
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 VI (Hers Disease)
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 (McArdle Disease)
Genetics of Hyperammonemia
Genetics of Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH) Syndrome
Genetics of Klippel-Trenaunay-Weber Syndrome
Genetics of Marfan Syndrome
Genetics of Menkes Kinky Hair Disease
Genetics of Methylmalonic Acidemia
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 Pyruvate Carboxylase Deficiency
Genetics of Rubinstein-Taybi Syndrome
Genetics of Sjogren-Larsson Syndrome
Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)
Genetics of Tuberous Sclerosis
Genetics of Waardenburg Syndrome
Genetics of von Gierke Disease (Glycogen-Storage Disease Type 1)
Glutathione Synthetase Deficiency
Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency)
Hereditary Fructose Intolerance (HFI) (Fructose 1-Phosphate Aldolase Deficiency)
Hereditary Periodic Fever Syndromes
Holocarboxylase Synthetase Deficiency
Holoprosencephaly
Hunter Syndrome (Mucopolysaccharidosis Type II)
Hurler Syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I)
Hyperphenylalaninemia
Hypochloremic Alkalosis
Hypophosphatasia (HPP)
Inclusion-Cell (I-Cell) Disease (Mucolipidosis Type II)
Kearns-Sayre Syndrome
Klinefelter Syndrome
Krabbe Disease
Lipid Storage Disorders
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
MELAS Syndrome
Macrocephaly
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Maple Syrup Urine Disease (MSUD)
Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI)
Meckel-Gruber Syndrome
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD)
Metachromatic Leukodystrophy
Microcephaly
Morquio Syndrome (Mucopolysaccharidosis Type IV)
N-Acetylglutamate Synthetase Deficiency
Noonan Syndrome
Oculocerebrorenal Dystrophy (Lowe Syndrome)
Ornithine Transcarbamylase (OTC) Deficiency
Patau Syndrome
Phenylketonuria (PKU)
Prader-Willi Syndrome
Proteus Syndrome
Pyruvate Dehydrogenase Deficiency (PDCD)
Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
Sialidosis (Mucolipidosis I)
Silver-Russell Syndrome
Sitosterolemia (Phytosterolemia)
Skeletal Dysplasia
Sly Syndrome (Mucopolysaccharidosis Type VII)
Smith-Lemli-Opitz Syndrome
Sphingomyelinase Deficiency
Sulfite Oxidase Deficiency and Molybdenum Cofactor 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
