Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

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.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

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

CSB-PA582871- 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

CSB-PA582871-100ul 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

MPH01927 150 ul / 10 uM
EUR 145.2

anti-Gab1 (Ab-627)

LF-PA20172 100 ul
EUR 400.8
Description: Rabbit polyclonal to Gab1

Gab1 (Ab-627) Antibody

E021283-1 50μg/50μl
EUR 100
Description: Available in various conjugation types.

Gab1 (Ab-627) Antibody

E021283-2 100μg/100μl
EUR 170
Description: Available in various conjugation types.

Gab1 (Ab-627) Antibody

E11-7090B 100μg/100μl
EUR 225
Description: Available in various conjugation types.

Gab1 (Ab-627) Conjugated Antibody

C21283 100ul
EUR 476.4

hsa-miR-627 miRNA Antagomir

MNH03272 2 x 5.0 nmol
EUR 394.8

hsa-miR-627 miRNA Inhibitor

MIH03272 2 x 5.0 nmol
EUR 211.2

hsa-miR-627-3p Primers

MPH03390 150 ul / 10 uM
EUR 145.2

hsa-miR-627-5p Primers

MPH03391 150 ul / 10 uM
EUR 145.2

Gab1 (Ab-627) Rabbit pAb

E2310130 100ul
EUR 225
Description: Available in various conjugation types.

Zinc Finger Protein 627 (ZNF627) Antibody

abx037044-100ug 100 ug
EUR 469.2

Zinc Finger Protein 627 (ZNF627) Antibody

20-abx306221
  • EUR 493.20
  • EUR 2214.00
  • EUR 718.80
  • EUR 218.40
  • EUR 360.00
  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug

hsa-miR-627-3p miRNA Antagomir

MNH03273 2 x 5.0 nmol
EUR 394.8

hsa-miR-627-5p miRNA Antagomir

MNH03274 2 x 5.0 nmol
EUR 394.8

hsa-miR-627-3p miRNA Inhibitor

MIH03273 2 x 5.0 nmol
EUR 211.2

hsa-miR-627-5p miRNA Inhibitor

MIH03274 2 x 5.0 nmol
EUR 211.2

Anti-STAT4 (aa 613-627) antibody

STJ72162 100 µg
EUR 430.8

H-DL-Leu-DL-Ala-OH

G-2470.0005 5.0g
EUR 151.2
Description: Sum Formula: C9H18N2O3; CAS# [5060-46-8]

H-DL-Leu-DL-Ala-OH

G-2470.0025 25.0g
EUR 501.6
Description: Sum Formula: C9H18N2O3; CAS# [5060-46-8]

H-DL-Ala-DL-Ala-OH

G-1140.0005 5.0g
EUR 211.2
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1]

H-DL-Ala-DL-Ala-OH

G-1140.0025 25.0g
EUR 733.2
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1]

DL-Naproxen

20-abx182435
  • EUR 427.20
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  • EUR 243.60
  • 100 g
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DL-Cystine

20-abx184678
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  • 100 g
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DL-Isoleucine

20-abx184679
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  • EUR 226.80
  • 100 g
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DL-Panthenol

20-abx184680
  • EUR 343.20
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  • EUR 610.80
  • 100 g
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  • 500 g

DL-Valine

20-abx185402
  • EUR 594.00
  • EUR 444.00
  • 1 kg
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DL-Lysine

20-abx185976
  • EUR 343.20
  • EUR 243.60
  • 100 g
  • 10 g

DL-Dopa

abx187922-1000g 1000 g
EUR 861.6

DL-Aminoglutethimide

B2040-100 each
EUR 144

DL-Adrenaline

B1326-50 50 mg
EUR 153.6
Description: DL-Epinephrine(DL-Adrenaline) is a hormone and a neurotransmitter.

DL-TBOA

B5084-10 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

B5084-50 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

B7294-25000 25 g
EUR 358.8

DL-AP4

B6200-100 100 mg
EUR 243.6

DL-AP7

B6203-10 10 mg
EUR 290.4

DL-AP7

B6203-50 50 mg
EUR 973.2

DL-AP5

B6204-10 10 mg
EUR 158.4

DL-AP5

B6204-25 25 mg
EUR 290.4

DL-AP5

B6204-50 50 mg
EUR 493.2

DL-Penylalaninol

5-07735 5g Ask for price

DL-Penylalaninol

5-07736 25g Ask for price

DL-Phenylglycinol

5-07747 25g Ask for price

DL-Phenylglycinol

5-07748 100g Ask for price

DL-Prolinol

5-07763 5g Ask for price

DL-Prolinol

5-07764 25g Ask for price

DL-AP3

A4535-100 100 mg
EUR 236.4
Description: Competitive group I metabotropic glutamate receptor antagonist and inhibitor of phosphoserine phosphatase.

DL-Cycloserine

F-1485.0050 50.0mg
EUR 254.4
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Cycloserine

F-1485.0250 250.0mg
EUR 907.2
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Cycloserine

F-1485.1000 1.0g
EUR 2648.4
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Thyronine

F-2405.0001 1.0g
EUR 254.4
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2]

DL-Thyronine

F-2405.0005 5.0g
EUR 907.2
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2]

DL-Menthol

N1875-20 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

N-1195.0025 25.0mg
EUR 400.8
Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6]

DL-Thiorphan

N-1195.0100 100.0mg
EUR 1125.6
Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6]

DL-Phosphinothricin

P034-1G 1 g
EUR 324

DL-Phosphinothricin

P034-250MG 250 mg
EUR 92.4

DL-Menthol

GL0768-100G 100 g
EUR 72

DL-Menthol

GL0768-250G 250 g
EUR 99.6

DL-Thiorphan

GL2922-25MG 25 mg
EUR 303.6

DL-Thiorphan

GL2922-5MG 5 mg
EUR 122.4

DL-Xylose

GC6865-5G 5 g
EUR 103.2

DL-Pantolactone

GX6080-10G 10 g
EUR 60

DL-Pantolactone

GX6080-25G 25 g
EUR 73.2

DL-Arabinose

GC1241-100G 100 g
EUR 370.8

DL-Arabinose

GC1241-25G 25 g
EUR 160.8

DL-Borneol

HY-N1368 100mg
EUR 142.8

DL-Homocystine

HY-W009390 5g
EUR 142.8

DL-Norvaline

HY-W010510 5g
EUR 142.8

DL-Homocysteine

HY-W040821 10mM/1mL
EUR 151.2

DL-Serine

HY-Y0507 100mg
EUR 129.6

DL-Menthol

HY-Y1683 100mg
EUR 129.6

DL-TBOA

HY-107522 10mM/1mL
EUR 675.6

DL-Dopa

HY-113404 10mM/1mL
EUR 135.6

DL-Carnitine

HY-B0399A 500mg
EUR 129.6

DL-Epinephrine

HY-B0447 500mg
EUR 129.6

DL-Panthenol

HY-B1024 10mM/1mL
EUR 135.6

DL-Xylose

HY-B1070 100mg
EUR 142.8

DL-Glutamine

HY-B1346 100mg
EUR 142.8

DL-Lysine

HY-B2236 1g
EUR 142.8

DL-Arginine

HY-N0454 100mg
EUR 129.6

DL-Tryptophan

GM0325-100G 100 g
EUR 208.8

DL-Tryptophan

GM0325-25G 25 g
EUR 93.6

DL-Tryptophan

GM0325-5G 5 g
EUR 55.2

DL-Homoserine

GM0565-1G 1 g
EUR 74.4

DL-Homoserine

GM0565-5G 5 g
EUR 147.6

DL-Isoleucine

GM0912-100G 100 g
EUR 208.8

DL-Isoleucine

GM0912-10G 10 g
EUR 60

DL-Isoleucine

GM0912-25G 25 g
EUR 93.6

DL-Isoleucine

GM0912-50G 50 g
EUR 132

DL-Isoleucine

GM0912-5G 5 g
EUR 55.2

DL-Norleucine

GM0955-100G 100 g
EUR 180

DL-Norleucine

GM0955-25G 25 g
EUR 84

DL-Methionine

GM2607-100G 100 g
EUR 52.8

DL-Methionine

GM2607-1KG 1 kg
EUR 112.8

DL-Methionine

GM2607-250G 250 g
EUR 63.6

DL-Methionine

GM2607-500G 500 g
EUR 79.2

DL-Methionine

GM2607-5KG 5 kg
EUR 274.8

DL-Valine

GM3274-100G 100 g
EUR 79.2

DL-Valine

GM3274-1KG 1 kg
EUR 313.2

DL-Valine

GM3274-250G 250 g
EUR 122.4

DL-Valine

GM3274-25G 25 g
EUR 55.2

DL-Valine

GM3274-500G 500 g
EUR 189.6

DL-Alanine

GM4363-100G 100 g
EUR 55.2

DL-Alanine

GM4363-1KG 1 kg
EUR 122.4

DL-Alanine

GM4363-250G 250 g
EUR 63.6

DL-Alanine

GM4363-25G 25 g
EUR 48

DL-Alanine

GM4363-500G 500 g
EUR 84

DL-Alanine

GM4363-5KG 5 kg
EUR 337.2

DL-Cystine

GM5088-1G 1 g
EUR 74.4

DL-Cystine

GM5088-5G 5 g
EUR 151.2

DL-Phenylalanine

GM5287-100G 100 g
EUR 93.6

DL-Phenylalanine

GM5287-1KG 1 kg
EUR 313.2

DL-Phenylalanine

GM5287-250G 250 g
EUR 132

DL-Phenylalanine

GM5287-25G 25 g
EUR 60

DL-Phenylalanine

GM5287-500G 500 g
EUR 199.2

DL-Histidine

GM6216-100G 100 g
EUR 294

DL-Histidine

GM6216-25G 25 g
EUR 132

DL-Histidine

GM6216-5G 5 g
EUR 69.6

DL-Cysteine

GM6393-1G 1 g
EUR 64.8

DL-Tyrosine

GM6469-100G 100 g
EUR 180

DL-Tyrosine

GM6469-10G 10 g
EUR 60

DL-Tyrosine

GM6469-250G 250 g
EUR 322.8

DL-Tyrosine

GM6469-25G 25 g
EUR 84

DL-Tyrosine

GM6469-50G 50 g
EUR 122.4

DL-Proline

GM7043-100G 100 g
EUR 370.8

DL-Proline

GM7043-1G 1 g
EUR 55.2

DL-Proline

GM7043-25G 25 g
EUR 170.4

DL-Proline

GM7043-5G 5 g
EUR 79.2

DL-Arginine

GM7749-25G 25 g
EUR 122.4

DL-Arginine

GM7749-5G 5 g
EUR 60

DL-Threonine

GM8351-100G 100 g
EUR 122.4

DL-Threonine

GM8351-250G 250 g
EUR 217.2

DL-Threonine

GM8351-25G 25 g
EUR 64.8

DL-Threonine

GM8351-500G 500 g
EUR 370.8

DL-Serine

GM9506-100G 100 g
EUR 74.4

DL-Serine

GM9506-1KG 1 kg
EUR 322.8

DL-Serine

GM9506-250G 250 g
EUR 127.2

DL-Serine

GM9506-500G 500 g
EUR 208.8

DL-Leucine

GM9742-100G 100 g
EUR 112.8

DL-Leucine

GM9742-250G 250 g
EUR 217.2

DL-Leucine

GM9742-25G 25 g
EUR 64.8

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