Select item 78687 Argininosuccinate lyase deficiency ASA deficiency ASL deficiency Arginino succinase deficiency Argininosuccinate acidemia Argininosuccinic Aciduria Argininosuccinic acid lyase deficiency Inborn error of urea synthesis, arginino succinic type Urea cycle disorder, arginino succinase type Select item 78650 Niemann-Pick disease, type A SPHINGOMYELIN LIPIDOSIS SPHINGOMYELINASE DEFICIENCY Select item 78651 Niemann-Pick disease, type B Select item 11161 Phytanic acid storage disease Disorder of cornification 11 (phytanic acid type) Doc 11 (phytanic acid type) HMSN 4 HMSN IV Herditary sensory and motor neuropathy type 4 Heredopathia atactica polyneuritiformis Hypertrophic neuropathy of Refsum PEX7-Related Refsum Disease PHYH-Related Refsum Disease Phytanic acid oxidase deficiency REFSUM DISEASE, CLASSIC Refsum Disease Select item 203368 Salla disease Free Sialic Acid Storage Disorders Infantile sialic acid storage disorder (ISSD) N-acetylneuraminic acid (NANA) storage disease (NSD) Sialuria, Finnish type Select item 409531 Gaucher disease type I Acid beta-glucosidase deficiency GBA DEFICIENCY GD 1 GD I Gaucher disease type 1 Gaucher disease, noncerebral juvenile Gaucher's disease, type 1 Glucocerebrosidase deficiency Select item 5340 Glycogen storage disease, type II ACID ALPHA-GLUCOSIDASE DEFICIENCY Acid maltase deficiency disease Aglucosidase alfa Alpha-1,4-glucosidase deficiency Cardiomegalia glycogenica diffusa Deficiency of alpha-glucosidase Deficiency of lysosomal alpha-glucosidase GLYCOGENOSIS, GENERALIZED, CARDIAC FORM GSD II Glucosidase acid-1,4-alpha deficiency Glycogen Storage Disease Type II (Pompe Disease) Glycogen storage disease type 2 POMPE DISEASE Select item 137980 Sialuria Sialic Acid Storage Disease Sialuria, French type Select item 1413 Alkaptonuria Alcaptonuria Alkaptonuric ochronosis Homogentisic acid oxidase deficiency Homogentisic acidura Ochronosis, hereditary Select item 53088 Wolman disease Acid cholesteryl ester hydrolase deficiency, Wolman type Acid lipase disease CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE LAL DEFICIENCY, COMPLETE LIPA DEFICIENCY, COMPLETE LYSOSOMAL ACID LIPASE DEFICIENCY, ACUTE INFANTILE LYSOSOMAL ACID LIPASE DEFICIENCY, COMPLETE Wolman disease with hypolipoproteinemia and acanthocytosis Wolman disease, CESD Select item 203367 Sialic acid storage disease, severe infantile type Free sialic acid storage disease, infantile form Infantile Free Sialic Acid Storage Disease Infantile Sialic Acid Storage Disease Infantile sialic acid storage disorder N-Acetylneuraminic acid storage disease NANA STORAGE DISEASE Sialuria, infantile form Select item 220945 Deficiency of aromatic-L-amino-acid decarboxylase Aromatic L-Amino Acid Decarboxylase Deficiency Aromatic amino acid decarboxylase deficiency DDC deficiency Dopa decarboxylase deficiency Select item 82822 Isovaleryl-CoA dehydrogenase deficiency IVD deficiency Isovaleric acid CoA dehydrogenase deficiency Isovaleric acidemia Isovaleryl CoA carboxylase deficiency Select item 1807768 Lysosomal acid lipase deficiency Acid cholesteryl ester hydrolase deficiency, type 2 Select item 450499 Valproic Acid response Select item 8226 Cystinuria CYSTINURIA, TYPE I CYSTINURIA, TYPE II CYSTINURIA, TYPE III Cystinuria, non-type I Select item 450498 Tretinoin response ATRA response All trans retinoic acid response Retin-A response Select item 79470 Peroxisome biogenesis disorder 1B Infantile Refsum disease Infantile form of phytanic acid storage disease Refsum disease, infantile form Select item 450482 Phenylacetic acid response Sodium phenylacetate response Select item 83349 Beta-hydroxyisobutyryl-CoA deacylase deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency HIBCH DEFICIENCY METHACRYLIC ACID TOXICITY METHACRYLIC ACIDURIA VALINE METABOLIC DEFECT 
