BACKGROUNDTo evaluate the descriptive epidemiological information on neuronal ceroid lipofuscinoses (NCLs) in Italy, determine the spectrum of mutations in the causative genes, and analyze attainable genotype-phenotype relations.METHODSA cohort of NCL sufferers was recruited by means of CLNet, a nationwide community of youngster neurology items. Diagnosis was based mostly on scientific and pathological standards following ultrastructural investigation of peripheral tissues.
Molecular affirmation was obtained throughout the diagnostic process or, when attainable, retrospectively.RESULTSOne hundred eighty-three NCL sufferers from 156 households have been recruited between 1966 and 2010; 124 of these sufferers (from 88 households) have been examined for identified NCL genes, with 9.7% of the sufferers in this pattern having not a genetic analysis. Late childish onset NCL (LINCL) accounted for 75.8% of molecularly confirmed circumstances, probably the most frequent kind being secondary to mutations in CLN2 (23.5%). Juvenile onset NCL sufferers accounted for 17.7% of this cohort, a smaller proportion than discovered in different European international locations. Gene mutations predicted extreme protein alterations in 65.5% of the CLN2 and 78.6% of the CLN7 circumstances.
An incidence price of 0.98/100,000 dwell births was discovered in 69 NCL sufferers born between 1992 and 2004, predicting 5 new circumstances a 12 months. Prevalence was 1.2/1,000,000.CONCLUSIONSDescriptive epidemiology information point out a decrease incidence of NCLs in Italy as in comparison with different European international locations.

A comparatively excessive quantity of personal mutations affecting all NCL genes would possibly clarify the genetic heterogeneity. Specific gene mutations have been related to extreme scientific programs in chosen NCL kinds solely.
GAB1 (Ab-627) Antibody |
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CSB-PA582871- | Cusabio | each | EUR 402 |
Description: A polyclonal antibody against GAB1 (Ab-627). Recognizes GAB1 (Ab-627) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000 |
GAB1 (Ab-627) Antibody |
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CSB-PA582871-100ul | Cusabio | 100ul | EUR 379.2 |
Description: A polyclonal antibody against GAB1 (Ab-627). Recognizes GAB1 (Ab-627) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000 |
hsa-miR-627 Primers |
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MPH01927 | ABM | 150 ul / 10 uM | EUR 145.2 |
anti-Gab1 (Ab-627) |
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LF-PA20172 | Abfrontier | 100 ul | EUR 400.8 |
Description: Rabbit polyclonal to Gab1 |
Gab1 (Ab-627) Conjugated Antibody |
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C21283 | SAB | 100ul | EUR 476.4 |
hsa-miR-627 miRNA Antagomir |
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MNH03272 | ABM | 2 x 5.0 nmol | EUR 394.8 |
hsa-miR-627 miRNA Inhibitor |
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MIH03272 | ABM | 2 x 5.0 nmol | EUR 211.2 |
hsa-miR-627-3p Primers |
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MPH03390 | ABM | 150 ul / 10 uM | EUR 145.2 |
hsa-miR-627-5p Primers |
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MPH03391 | ABM | 150 ul / 10 uM | EUR 145.2 |
Zinc Finger Protein 627 (ZNF627) Antibody |
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abx037044-100ug | Abbexa | 100 ug | EUR 469.2 |
Zinc Finger Protein 627 (ZNF627) Antibody |
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20-abx306221 | Abbexa |
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hsa-miR-627-3p miRNA Antagomir |
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MNH03273 | ABM | 2 x 5.0 nmol | EUR 394.8 |
hsa-miR-627-5p miRNA Antagomir |
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MNH03274 | ABM | 2 x 5.0 nmol | EUR 394.8 |
hsa-miR-627-3p miRNA Inhibitor |
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MIH03273 | ABM | 2 x 5.0 nmol | EUR 211.2 |
hsa-miR-627-5p miRNA Inhibitor |
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MIH03274 | ABM | 2 x 5.0 nmol | EUR 211.2 |
Anti-STAT4 (aa 613-627) antibody |
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STJ72162 | St John's Laboratory | 100 µg | EUR 430.8 |
H-DL-Leu-DL-Ala-OH |
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G-2470.0005 | Bachem | 5.0g | EUR 151.2 |
Description: Sum Formula: C9H18N2O3; CAS# [5060-46-8] |
H-DL-Leu-DL-Ala-OH |
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G-2470.0025 | Bachem | 25.0g | EUR 501.6 |
Description: Sum Formula: C9H18N2O3; CAS# [5060-46-8] |
H-DL-Ala-DL-Ala-OH |
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G-1140.0005 | Bachem | 5.0g | EUR 211.2 |
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1] |
H-DL-Ala-DL-Ala-OH |
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G-1140.0025 | Bachem | 25.0g | EUR 733.2 |
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1] |
DL-Naproxen |
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20-abx182435 | Abbexa |
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DL-Cystine |
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20-abx184678 | Abbexa |
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DL-Isoleucine |
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20-abx184679 | Abbexa |
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DL-Panthenol |
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20-abx184680 | Abbexa |
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DL-Valine |
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20-abx185402 | Abbexa |
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DL-Lysine |
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20-abx185976 | Abbexa |
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DL-Dopa |
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abx187922-1000g | Abbexa | 1000 g | EUR 861.6 |
DL-Aminoglutethimide |
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B2040-100 | Biovision | each | EUR 144 |
DL-Aminoglutethimide |
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B2040-500 | Biovision | each | EUR 314.4 |
DL-Adrenaline |
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B1326-50 | ApexBio | 50 mg | EUR 153.6 |
Description: DL-Epinephrine(DL-Adrenaline) is a hormone and a neurotransmitter. |
DL-TBOA |
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B5084-10 | ApexBio | 10 mg | EUR 466.8 |
Description: Ki: 42 ?M for EAAT1; 5.7 ?M for EAAT2Glutamate acts as an excitatory neurotransmitter in the mammalian central nervous system and a potent neurotoxin. |
DL-TBOA |
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B5084-50 | ApexBio | 50 mg | EUR 1771.2 |
Description: Ki: 42 ?M for EAAT1; 5.7 ?M for EAAT2Glutamate acts as an excitatory neurotransmitter in the mammalian central nervous system and a potent neurotoxin. |
DL-Dithiothreitol |
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B7294-25000 | ApexBio | 25 g | EUR 358.8 |
DL-AP4 |
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B6200-100 | ApexBio | 100 mg | EUR 243.6 |
DL-AP7 |
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B6203-10 | ApexBio | 10 mg | EUR 290.4 |
DL-AP7 |
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B6203-50 | ApexBio | 50 mg | EUR 973.2 |
DL-AP5 |
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B6204-10 | ApexBio | 10 mg | EUR 158.4 |
DL-AP5 |
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B6204-25 | ApexBio | 25 mg | EUR 290.4 |
DL-AP5 |
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B6204-50 | ApexBio | 50 mg | EUR 493.2 |
DL-Penylalaninol |
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5-07735 | CHI Scientific | 5g | Ask for price |
DL-Penylalaninol |
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5-07736 | CHI Scientific | 25g | Ask for price |
DL-Phenylglycinol |
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5-07747 | CHI Scientific | 25g | Ask for price |
DL-Phenylglycinol |
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5-07748 | CHI Scientific | 100g | Ask for price |
DL-Prolinol |
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5-07763 | CHI Scientific | 5g | Ask for price |
DL-Prolinol |
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5-07764 | CHI Scientific | 25g | Ask for price |
DL-AP3 |
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A4535-100 | ApexBio | 100 mg | EUR 236.4 |
Description: Competitive group I metabotropic glutamate receptor antagonist and inhibitor of phosphoserine phosphatase. |
DL-Cycloserine |
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F-1485.0050 | Bachem | 50.0mg | EUR 254.4 |
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3] |
DL-Cycloserine |
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F-1485.0250 | Bachem | 250.0mg | EUR 907.2 |
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3] |
DL-Cycloserine |
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F-1485.1000 | Bachem | 1.0g | EUR 2648.4 |
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3] |
DL-Thyronine |
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F-2405.0001 | Bachem | 1.0g | EUR 254.4 |
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2] |
DL-Thyronine |
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F-2405.0005 | Bachem | 5.0g | EUR 907.2 |
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2] |
DL-Menthol |
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N1875-20 | ApexBio | 20 mg | EUR 115.2 |
Description: Extracted from Herba Menthae Haplocalycis;Suitability:Alcohol,ether,acetic acid,liquid paraffin and petroleum ether;Store the product in sealed,cool and dry condition |
DL-Thiorphan |
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N-1195.0025 | Bachem | 25.0mg | EUR 400.8 |
Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6] |
DL-Thiorphan |
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N-1195.0100 | Bachem | 100.0mg | EUR 1125.6 |
Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6] |
DL-Phosphinothricin |
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P034-1G | TOKU-E | 1 g | EUR 324 |
DL-Phosphinothricin |
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P034-250MG | TOKU-E | 250 mg | EUR 92.4 |
DL-Menthol |
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GL0768-100G | Glentham Life Sciences | 100 g | EUR 72 |
DL-Menthol |
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GL0768-250G | Glentham Life Sciences | 250 g | EUR 99.6 |
DL-Thiorphan |
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GL2922-25MG | Glentham Life Sciences | 25 mg | EUR 303.6 |
DL-Thiorphan |
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GL2922-5MG | Glentham Life Sciences | 5 mg | EUR 122.4 |
DL-Xylose |
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GC6865-5G | Glentham Life Sciences | 5 g | EUR 103.2 |
DL-Pantolactone |
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GX6080-10G | Glentham Life Sciences | 10 g | EUR 60 |
DL-Pantolactone |
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GX6080-25G | Glentham Life Sciences | 25 g | EUR 73.2 |
DL-Arabinose |
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GC1241-100G | Glentham Life Sciences | 100 g | EUR 370.8 |
DL-Arabinose |
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GC1241-25G | Glentham Life Sciences | 25 g | EUR 160.8 |
DL-Borneol |
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HY-N1368 | MedChemExpress | 100mg | EUR 142.8 |
DL-Homocystine |
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HY-W009390 | MedChemExpress | 5g | EUR 142.8 |
DL-Norvaline |
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HY-W010510 | MedChemExpress | 5g | EUR 142.8 |
DL-Homocysteine |
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HY-W040821 | MedChemExpress | 10mM/1mL | EUR 151.2 |
DL-Serine |
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HY-Y0507 | MedChemExpress | 100mg | EUR 129.6 |
DL-Menthol |
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HY-Y1683 | MedChemExpress | 100mg | EUR 129.6 |
DL-TBOA |
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HY-107522 | MedChemExpress | 10mM/1mL | EUR 675.6 |
DL-Dopa |
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HY-113404 | MedChemExpress | 10mM/1mL | EUR 135.6 |
DL-Carnitine |
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HY-B0399A | MedChemExpress | 500mg | EUR 129.6 |
DL-Epinephrine |
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HY-B0447 | MedChemExpress | 500mg | EUR 129.6 |
DL-Panthenol |
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HY-B1024 | MedChemExpress | 10mM/1mL | EUR 135.6 |
DL-Xylose |
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HY-B1070 | MedChemExpress | 100mg | EUR 142.8 |
DL-Glutamine |
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HY-B1346 | MedChemExpress | 100mg | EUR 142.8 |
DL-Lysine |
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HY-B2236 | MedChemExpress | 1g | EUR 142.8 |
DL-Arginine |
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HY-N0454 | MedChemExpress | 100mg | EUR 129.6 |
DL-Tryptophan |
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GM0325-100G | Glentham Life Sciences | 100 g | EUR 208.8 |
DL-Tryptophan |
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GM0325-25G | Glentham Life Sciences | 25 g | EUR 93.6 |
DL-Tryptophan |
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GM0325-5G | Glentham Life Sciences | 5 g | EUR 55.2 |
DL-Homoserine |
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GM0565-1G | Glentham Life Sciences | 1 g | EUR 74.4 |
DL-Homoserine |
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GM0565-5G | Glentham Life Sciences | 5 g | EUR 147.6 |
DL-Isoleucine |
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GM0912-100G | Glentham Life Sciences | 100 g | EUR 208.8 |
DL-Isoleucine |
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GM0912-10G | Glentham Life Sciences | 10 g | EUR 60 |
DL-Isoleucine |
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GM0912-25G | Glentham Life Sciences | 25 g | EUR 93.6 |
DL-Isoleucine |
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GM0912-50G | Glentham Life Sciences | 50 g | EUR 132 |
DL-Isoleucine |
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GM0912-5G | Glentham Life Sciences | 5 g | EUR 55.2 |
DL-Norleucine |
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GM0955-100G | Glentham Life Sciences | 100 g | EUR 180 |
DL-Norleucine |
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GM0955-25G | Glentham Life Sciences | 25 g | EUR 84 |
DL-Methionine |
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GM2607-100G | Glentham Life Sciences | 100 g | EUR 52.8 |
DL-Methionine |
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GM2607-1KG | Glentham Life Sciences | 1 kg | EUR 112.8 |
DL-Methionine |
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GM2607-250G | Glentham Life Sciences | 250 g | EUR 63.6 |
DL-Methionine |
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GM2607-500G | Glentham Life Sciences | 500 g | EUR 79.2 |
DL-Methionine |
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GM2607-5KG | Glentham Life Sciences | 5 kg | EUR 274.8 |
DL-Valine |
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GM3274-100G | Glentham Life Sciences | 100 g | EUR 79.2 |
DL-Valine |
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GM3274-1KG | Glentham Life Sciences | 1 kg | EUR 313.2 |
DL-Valine |
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GM3274-250G | Glentham Life Sciences | 250 g | EUR 122.4 |
DL-Valine |
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GM3274-25G | Glentham Life Sciences | 25 g | EUR 55.2 |
DL-Valine |
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GM3274-500G | Glentham Life Sciences | 500 g | EUR 189.6 |
DL-Alanine |
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GM4363-100G | Glentham Life Sciences | 100 g | EUR 55.2 |
DL-Alanine |
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GM4363-1KG | Glentham Life Sciences | 1 kg | EUR 122.4 |
DL-Alanine |
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GM4363-250G | Glentham Life Sciences | 250 g | EUR 63.6 |
DL-Alanine |
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GM4363-25G | Glentham Life Sciences | 25 g | EUR 48 |
DL-Alanine |
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GM4363-500G | Glentham Life Sciences | 500 g | EUR 84 |
DL-Alanine |
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GM4363-5KG | Glentham Life Sciences | 5 kg | EUR 337.2 |
DL-Cystine |
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GM5088-1G | Glentham Life Sciences | 1 g | EUR 74.4 |
DL-Cystine |
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GM5088-5G | Glentham Life Sciences | 5 g | EUR 151.2 |
DL-Phenylalanine |
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GM5287-100G | Glentham Life Sciences | 100 g | EUR 93.6 |
DL-Phenylalanine |
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GM5287-1KG | Glentham Life Sciences | 1 kg | EUR 313.2 |
DL-Phenylalanine |
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GM5287-250G | Glentham Life Sciences | 250 g | EUR 132 |
DL-Phenylalanine |
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GM5287-25G | Glentham Life Sciences | 25 g | EUR 60 |
DL-Phenylalanine |
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GM5287-500G | Glentham Life Sciences | 500 g | EUR 199.2 |
DL-Histidine |
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GM6216-100G | Glentham Life Sciences | 100 g | EUR 294 |
DL-Histidine |
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GM6216-25G | Glentham Life Sciences | 25 g | EUR 132 |
DL-Histidine |
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GM6216-5G | Glentham Life Sciences | 5 g | EUR 69.6 |
DL-Cysteine |
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GM6393-1G | Glentham Life Sciences | 1 g | EUR 64.8 |
DL-Tyrosine |
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GM6469-100G | Glentham Life Sciences | 100 g | EUR 180 |
DL-Tyrosine |
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GM6469-10G | Glentham Life Sciences | 10 g | EUR 60 |
DL-Tyrosine |
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GM6469-250G | Glentham Life Sciences | 250 g | EUR 322.8 |
DL-Tyrosine |
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GM6469-25G | Glentham Life Sciences | 25 g | EUR 84 |
DL-Tyrosine |
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GM6469-50G | Glentham Life Sciences | 50 g | EUR 122.4 |
DL-Proline |
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GM7043-100G | Glentham Life Sciences | 100 g | EUR 370.8 |
DL-Proline |
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GM7043-1G | Glentham Life Sciences | 1 g | EUR 55.2 |
DL-Proline |
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GM7043-25G | Glentham Life Sciences | 25 g | EUR 170.4 |
DL-Proline |
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GM7043-5G | Glentham Life Sciences | 5 g | EUR 79.2 |
DL-Arginine |
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GM7749-25G | Glentham Life Sciences | 25 g | EUR 122.4 |
DL-Arginine |
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GM7749-5G | Glentham Life Sciences | 5 g | EUR 60 |
DL-Threonine |
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GM8351-100G | Glentham Life Sciences | 100 g | EUR 122.4 |
DL-Threonine |
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GM8351-250G | Glentham Life Sciences | 250 g | EUR 217.2 |
DL-Threonine |
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GM8351-25G | Glentham Life Sciences | 25 g | EUR 64.8 |
DL-Threonine |
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GM8351-500G | Glentham Life Sciences | 500 g | EUR 370.8 |
DL-Serine |
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GM9506-100G | Glentham Life Sciences | 100 g | EUR 74.4 |
DL-Serine |
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GM9506-1KG | Glentham Life Sciences | 1 kg | EUR 322.8 |
DL-Serine |
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GM9506-250G | Glentham Life Sciences | 250 g | EUR 127.2 |
DL-Serine |
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GM9506-500G | Glentham Life Sciences | 500 g | EUR 208.8 |
DL-Leucine |
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GM9742-100G | Glentham Life Sciences | 100 g | EUR 112.8 |
DL-Leucine |
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GM9742-250G | Glentham Life Sciences | 250 g | EUR 217.2 |
DL-Leucine |
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GM9742-25G | Glentham Life Sciences | 25 g | EUR 64.8 |
DL-Leucine |
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GM9742-50G | Glentham Life Sciences | 50 g | EUR 86.4 |
DL-Lysine |
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GM9803-1G | Glentham Life Sciences | 1 g | EUR 50.4 |
DL-Lysine |
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GM9803-5G | Glentham Life Sciences | 5 g | EUR 74.4 |