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Lysomol Storage Diseases

Gaucher Disease

December 1, 2016

An inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected …

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Fabry Disease

December 1, 2016

An inherited disorder that results from the buildup of a particular type of fat in the body's cells. Characteristic features of Fabry disease include …

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New Born Disorders

  • Amino Acidurias
    • Pyruvate Carboxylase Deficiency
    • PKU and Hyperphe
    • TYR III
    • TYR II
    • TYR 1
    • Hypermethioninemia (MET)
    • Homocystinuria
  • Disorders of Immune Function
    • Adenosine Deaminase deficiency (ADA)
    • ZAP70-Related Severe Combined Immunodeficiency
    • X-linked SCID
  • Disorders of Sugar Metabolism
    • GALE
    • GALK 1
    • Classic Galactosemia (GALT)
    • M/SCHADD
  • Disorders of Vitamins & Cofactors
    • Defects of Biopterin Cofactor Biosynthesis / Biopterin Cofactor Regeneration
    • Biotinidase Deficiency (BIOT)
  • Fatty Acid Oxidation and Ketone Disorders
    • VLCAD
    • Trifunctional Protein Deficiency (TFP)
    • LCHAD
    • MCKAT
    • MCAD
    • SCAD
    • CPT II
    • CPT IA
    • CACT
    • CUD
    • BKT
  • Lysomol Storage Diseases
    • Pompe Disease
    • Niemann-Pick Disease
    • Krabbe Disease
    • Gaucher Disease
    • Fabry Disease
  • Organic Acidurias
    • Propionic Acidemia
    • Methylmalonic Acidemia
    • Malonic Academia (MAL)
    • IBD
    • Isovaleric Acidemia
    • GA-II
    • GA-1
    • DE Red
    • 3MGA
    • 2MGB
    • 2M3HBA
    • HMG
    • 3-MCC Deficiency
  • Thyroid/Adrenal/Other Gland Disorders
    • VAR HB
    • Sickle-Haemobglobin C Disease (HB S/C)
    • Cystic Fibrosis (CF)
    • Congenital Hypothyroidism (CH)
    • CAH
    • Congenital Adrenal Hyperplasia
  • Urea Cycle Disorders
    • CIT II
    • Citrullinemia (CIT)
    • Arginase Deficiency (ARG)
    • Argininosuccinic Aciduria (ASA)

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CLEARWATER, FL 33759

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