Acyl-CoA Dehydrogenase Deficiency

Adrenoleukodystrophy

Anemia

Butyrylcholinesterase Deficiency

Congenital Disorder Of Glycosylation

Cystinosis

Disorders of Fatty Acid Oxidation

Disorders of Glucose Metabolism

Fabry Disease

Fanconi-Bickel Syndrome (Glycogen Storage Disease Type XI)

GM1 Gangliodisosis

Galactosemia

Gaucher Disease

Gitelman syndrome

Glucose-6-Phosphate Dehydrogenase Deficiency

Glutaric Acidemia

Glycine encephalopathy (aka: nonketotic hyperglycinemia)

Glycogen Storage Disease

Glycogen Storage Disease Type IV

Glycogen Storage Disease, Type V (McArdle Disease)

Hepatolenticular Degeneration

Hereditary Hemochromatosis Type 4

Hyperammonemia

Hypercalcemic and Hypocalcemic Disorders

Hypercholesterolemia

Hyperoxaluria

Hyperphenylalaninemia

Hypomagnesemia

Hypoparathyroidism

Hypothyroidism

Krabbe Disease (Globoid Cell Leukodystrophy)

Leber Congenital Amaurosis

Leukodystrophy

Leukoencephalopathy

Lipid Storage Disorders

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Metabolic Hypoglycemia

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance

Metabolism of Cobalamin, Folate and Homocysteine

Metachromatic Leukodystrophy

Methylmalonic Acidemia

Methylmalonic Aciduria and Homocystinuria

Milroy Disease (Lymphedema Type I)

Mitochondrial Complex Deficiencies

Mitochondrial Disorders

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Morquio Type B

Mucopolysaccharidosis

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis Type IVB

Multiple Carboxylase Deficiency

Niemann-Pick Disease

Organic Acidurias

Peroxisomal Disorders

Phenylalanine Hydroxylase Deficiency

Propionic Acidemia

Pyruvate Dehydrogenase Complex Deficiency

Retinal Dystrophies

Smith-Lemli-Opitz Syndrome

Succinyl-CoA:3-oxoacid CoA transferase deficiency

Tay-Sachs Disease (GM2 Gangliosidosis Type 1)

Thyroid Hormone Resistance

Trimethylaminuria

Tyrosinemia Type 1

Wilson Disease

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