Adenine phosphoribosyl transferase deficiencyAdrenogenital syndromeAdrenoleukodystrophy neonatal lethalalpha L iduronidasealpha N acetyl hexosaminidasealpha Neuraminidase beta Galactosidase stabilizer proteinalpha NeuraminidaseArylsulfatase Abeta Glucosidase
beta Hexosaminidase BCherry red spot myoclonus syndromeConn s syndromeFructosemiaGlucosyl ceramidosisHypermethioninemiaHyperpipecolic acidemiaLysosomal acid lipaseMucolipidosis I
Multiple sulfatase deficiencyNezelof s syndromeNiemann Pick disease APhosphoribosylpyrophosphate synthetase overacticityPhytanic acid oxidasePTH (Hyperparathyreoidism neonatal)Sanfilippo s syndromeSialidosis 1Sialidosis 2
Sulfoiduronate sulfataseThyro cerebro renal syndromeUDP N acetylglucosamine 1 phosphotransferaseUric acid (Hyperuricaemia familial)Uric acid (Hypouricemia)Wochner s syndromeWolman s diseaseXanthine oxidase deficiency
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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.