Parent Category: Reference Standards

Reference Standards for Inborn Errors


Inborn errors of metabolism are inherited genetic disorders that affect one or more of the hundreds of biochemical pathways in the human body. Testing of these disorders are comprised of highly complex and specialized laboratory procedures performed for evaluating enzyme activity, functional status of proteins, and levels of metabolites such as amino acids, organic acids, and fatty acids using a wide variety of specimen types including urine, whole blood, plasma, serum, cerebrospinal fluid, muscle biopsy, and other tissue types. Biochemical genetic tests also are among the critical follow-up procedures for diagnosing presumptive cases detected during newborn screening.

 

Catalog No. Product Name Enrichment
Quantity Price
5222 Acetyl carnitine
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D14737 Acetyl-d3-L-carnitine HCl 99% D
0.1 g $855   Add to Cart
0.25 g $1,595   Add to Cart
5386 Acetyl-L-carnitine HCl
Synonyms:
R(-)-2-Acetyloxy-3-carboxy-N,N,N-trimethyl-1-propanaminium chloride; (R)-3-Acetoxy-4-(trimethylammonio)butyratehydrochloride;
5 mg $495   Add to Cart
100 mg $1,500   Add to Cart
D3327 Acetyl-L-carnitine-d3 HCl (N-methyl-d3) 99%
50 mg $790   Add to Cart
5206 Acryloyl glycine
5 mg $790   Add to Cart
5224 Butyroyl carnitine
5 mg $820   Add to Cart
5207 Butyroyl glycine
Synonyms:
butyryl glycine;N-butyryl-Glycine;
1 g $390   Add to Cart
D5225 Butyroyl N-(methyl-d3)-carnitine 98%D
5 mg $1,200   Add to Cart
5285 n-Butyryl Carnitine Chloride
Synonyms:
n-Butyroyl Carnitine Chloride;
5 mg $950   Add to Cart
D1738 Butyryl-L-carnitine-d3 hydrochloride 99%D
10 mg $490   Add to Cart
5462 L-Carnitine HCl
Synonyms:
(-)-ß-Hydroxy-γ-(trimethylammonio)butyrate; Vitamin BT;
1 g $390   Add to Cart
5 g $895   Add to Cart
17894 L-CARNITINE L-TARTRATE / BASE
5 mg    Request Quote
50 mg    Request Quote
D2149 L-Carnitine-d3 HCl (methyl-d3)
Synonyms:
(3-Carboxy-2-hydroxypropyl)trimethylammonium chloride-d3;
99%D
5 mg $390   Add to Cart
D2156 DL-Carnitine-d9 HCl(trimethyl-d9) 98%D
10 mg $190   Add to Cart
50 mg $590   Add to Cart
78336 Caspofungin acetate C0 analog
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5208 Crotonyl glycine
5 mg $190   Add to Cart
25 mg $590   Add to Cart
103160 2-Cyclohexenyl-4-4-5-5-tetramethyl-1-3-2-dioxaborolane
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5169 2,4-Decadienoic acid
Synonyms:
(2E,4E)-2,4-Decadienoic Acid;
250 mg $390   Add to Cart
5226 Decanoyl Carnitine Chloride
5 mg $1,200   Add to Cart
D32445 Decanoyl-L-carnitine-d3 hydrochloride 99%D
10 mg $490   Add to Cart
5228 cis-4-Decenoyl carnitine
5 mg $900   Add to Cart
5230 2-Decenoyl carnitine
5 mg $850   Add to Cart
D5229 cis-4-Decenoyl N-(methyl-d3)-carnitine 98%D
5 mg $1,500   Add to Cart
D5231 2-Decenoyl N-(methyl-d3)-carnitine 98%D
5 mg $1,500   Add to Cart
103624 Delta undecalactone
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D5724 Desmosine-d4 inner salt d0 = 0.02%, d1 = 0.25%, d2 = 5.19%, d3 = 26.11%, d4 = 65.55%, d5
1 mg $725   Add to Cart
17789 Ethyl trans-4-decenoate
Synonyms:
trans-4-Decenoic acid ethyl ester;
5 g $990   Add to Cart
5185 Furan-2,5-dicarboxylic Acid
5 mg $1,200   Add to Cart
5203 2-Furoyl glycine
5 mg $790   Add to Cart
D5233 Glutaroyl N-(trimethyl-d9)-carnitine in ethanol 98%D
5 mg $690   Add to Cart
5232 Glutarylcarnitine
Synonyms:
Glutaroyl Carnitine;
5 mg $1,400   Add to Cart
D3449 Hexadecanoyl-L-carnitine-d3 hydrochloride
Synonyms:
Palmitoyl-L-carnitine HCl;
98%D
10 mg $390   Add to Cart
5209 Hexanoyl glycine
Synonyms:
N-(1-Oxohexyl)glycine; Caproylglycine; N-Caproylglycine; NSC 224460; n-Hexanoylglycine;
5 mg $990   Add to Cart
108667 Hexanoyl-L-carnitine
5 mg $190   Add to Cart
5170 2-Hydroxyadipic Acid
Synonyms:
2-Hydroxyhexanedioic acid;
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5181 4-Hydroxycyclohexylacetic acid
5 mg $1,300   Add to Cart
5195 3-Hydroxydodecanedioic acid
5 mg $990   Add to Cart
25 mg $2,490   Add to Cart
5190 3-Hydroxydodecanoic acid
25 mg $490   Add to Cart
5175 3-Hydroxyglutaric Acid
Synonyms:
3-Hydroxy-pentanedioic Acid; 2,4-Dideoxypentaric Acid; β-Hydroxyglutaric Acid;
5 mg $890   Add to Cart
5183 5-Hydroxyhexanoic Acid
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5177 3-Hydroxyisobutyric Acid
Synonyms:
3-Hydroxy-2-methylpropanoic Acid; β-Hydroxyisobutyric Acid; 2-(Hydroxymethyl)propionic Acid; 2-Methyl-3-hydroxypropanoic Acid; 2-Methyl-3-hydroxypropionic Acid; DL-3-Hydroxyisobutyric Acid;
5 mg $190   Add to Cart
25 mg $390   Add to Cart
5178 3-Hydroxyisovaleric Acid
Synonyms:
β-Hydroxy β-methylbutyric acid; HMB;
5 mg $590   Add to Cart
50 mg $990   Add to Cart
D5237 Hydroxyisovaleroyl N-(Trimethyl-d9)-carnitine
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5215 4-Hydroxyphenylacetyl glycine
5 mg $125   Add to Cart
5201 2-Hydroxyphytanic Acid
5 mg $490   Add to Cart
5179 3-Hydroxypropionic Acid (30% in Water)
Synonyms:
Hydracrylic acid; Ethylene Lactic Acid; 2-Deoxyglyceric Acid;
5 mg $790   Add to Cart
5189 3-Hydroxysebacic Acid
5 mg $1,500   Add to Cart
5192 2-Hydroxysebacic Acid
Synonyms:
2-Hydroxydecanedioic acid;
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5194 3-Hydroxysuberic Acid
Synonyms:
3-Hydroxyoctanedioic Acid; Octanedioic acid,3-hydroxy;
5 mg $490   Add to Cart
25 mg $1,490   Add to Cart
5196 3-Hydroxytetradecanedioic acid
1 mg $390   Add to Cart
5 mg $1,250   Add to Cart
5210 Isobutyroyl glycine
Synonyms:
Isobutyryl glycine;
5 mg $790   Add to Cart
D5239 Isobutyroyl N-(methyl-d3)-Carnitine 98%D
5 mg $1,800   Add to Cart
5238 Isobutyryl Carnitine
Synonyms:
Isobutyroyl Carnitine;
5 mg $950   Add to Cart
5292 Isovaleric Acid
1 g $550   Add to Cart
D5241 Isovaleroyl N-(methyl-d3)-Carnitine 98%D
5 mg $1,600   Add to Cart
5211 N-Isovaleroylglycine
Synonyms:
N-4-Methylbutyrylglycine; N-Isovalerylglycine; Isovalerylaminoacetic acid;
5 mg $250   Add to Cart
D37876 L-Menthol-1,2,6,6-d4
25 mg $790   Add to Cart
5212 Metacryloyl glycine
5 mg $790   Add to Cart
5197 2-Methylacetoacetic acid
Synonyms:
2-Acetylpropanoic Acid;
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5219 2-Methylbutyroyl glycine
5 mg $1,500   Add to Cart
D32092 2-Methylbutyroyl N-(methyl-d3)-carnitine
5 mg $1,800   Add to Cart
5214 3-Methylcrotonyl Glycine
Synonyms:
3-Methyl Crotonyl Glycine;
5 mg $790   Add to Cart
D32632 N-(3-Methylcrotonyl)glycine-2,2-d2 98%D
10 mg $590   Add to Cart
5188 2-Methylglutaconic acid
5 mg $1,200   Add to Cart
5244 2-Methylmalonoyl carnitine
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D5245 2-Methylmalonoyl N-(methyl-d3)-carnitine 98%D
5 mg $2,200   Add to Cart
5204 2-Methylvaleroyl glycine
5 mg $790   Add to Cart
5246 Myristoyl Carnitine
5 mg $960   Add to Cart
D5158 Myristoyl-L-carnitine-d3 hydrochloride
Synonyms:
Tetradecanoyl-L-carnitine-d3 HCl (N-methyl-d3);
99%D
10 mg $490   Add to Cart
5248 DL-Octanoyl carnitine chloride
Synonyms:
(±)-Octanoylcarnitine chloride;
1 mg $1,400   Add to Cart
5 mg $2,500   Add to Cart
5199 2-Octene-1,8-dioic Acid
Synonyms:
1-Hexene-1,6-dicarboxylate, 1-Hexene-1,6-dicarboxylic acid, 2- Octenedioate, (E)-oct-2-enedioic acid;
5 mg $1,300   Add to Cart
5171 2-Oxoadipic Acid
5 mg $1,350   Add to Cart
5202 2-Oxophytanic Acid
1 mg    Request Quote
5193 3-Hydroxy-3-phenylpropionic acid
5 mg $790   Add to Cart
5220 3-Phenylpropionyl glycine
10 mg $380   Add to Cart
5191 cis-5-Tetradecenoic Acid
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5217 Tiglyl glycine
Synonyms:
N-[(2E)-2-Methyl-1-oxo-2buten-1-yl]glycine; N-Tigloylglycine;
5 mg $950   Add to Cart
5218 Valeroyl glycine
5 mg $1,500   Add to Cart