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

21283-50ul 50ul
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gp100 (619-627) Peptide

20-abx266111
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anti-Gab1 (Ab-627)

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

hsa-miR-627 Primers

MPH01927 150 ul / 10 uM
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Gab1 (Ab-627) Conjugated Antibody

C21283 100ul
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hsa-miR-627 miRNA Inhibitor

MIH03272 2 x 5.0 nmol
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hsa-miR-627-3p Primers

MPH03390 150 ul / 10 uM
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hsa-miR-627 miRNA Antagomir

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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]

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]

DL-Cycloserine

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

DL-Cycloserine

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

DL-Cycloserine

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Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Thyronine

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

DL-Thyronine

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DL-TBOA

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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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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-Adrenaline

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Description: DL-Epinephrine(DL-Adrenaline) is a hormone and a neurotransmitter.

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DL-AP5

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DL-AP5

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DL-Aminoglutethimide

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DL-Aminoglutethimide

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DL-Dithiothreitol

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DL-Phosphinothricin

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DL-Thiorphan

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Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6]

DL-Thiorphan

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Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6]

DL-Menthol

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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-Homocystine

HY-W009390 5g
EUR 142.8

DL-Norvaline

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DL-Thiorphan

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DL-Tryptophan

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DL-Tryptophan

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DL-Homoserine

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DL-Homoserine

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DL-Isoleucine

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DL-Isoleucine

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DL-Isoleucine

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DL-Isoleucine

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DL-Isoleucine

GM0912-5G 5 g
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DL-Norleucine

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DL-Norleucine

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DL-Methionine

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DL-Methionine

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DL-Methionine

GM2607-250G 250 g
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DL-Methionine

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DL-Methionine

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DL-Valine

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DL-Valine

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DL-Valine

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DL-Valine

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DL-Alanine

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DL-Alanine

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DL-Alanine

GM4363-250G 250 g
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DL-Alanine

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DL-Alanine

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DL-Alanine

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DL-Cystine

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DL-Cystine

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DL-Phenylalanine

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DL-Phenylalanine

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DL-Phenylalanine

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DL-Phenylalanine

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DL-Phenylalanine

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DL-Histidine

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DL-Histidine

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DL-Histidine

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DL-Cysteine

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DL-Tyrosine

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DL-Tyrosine

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DL-Tyrosine

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DL-Tyrosine

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DL-Proline

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DL-Proline

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EUR 55.2

DL-Proline

GM7043-25G 25 g
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DL-Proline

GM7043-5G 5 g
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DL-Arginine

GM7749-25G 25 g
EUR 122.4

DL-Arginine

GM7749-5G 5 g
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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
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DL-Serine

GM9506-100G 100 g
EUR 74.4

DL-Serine

GM9506-1KG 1 kg
EUR 322.8

DL-Serine

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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

DL-Leucine

GM9742-50G 50 g
EUR 86.4

DL-Lysine

GM9803-1G 1 g
EUR 50.4

DL-Lysine

GM9803-5G 5 g
EUR 74.4

DL-Arabinose

GC1241-100G 100 g
EUR 370.8

DL-Arabinose

GC1241-25G 25 g
EUR 160.8

DL-Xylose

GC6865-5G 5 g
EUR 103.2

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-Borneol

HY-N1368 100mg
EUR 142.8

DL-TBOA

HY-107522 10mM/1mL
EUR 675.6

DL-Dopa

HY-113404 10mM/1mL
EUR 135.6

DL-Pantolactone

GX6080-10G 10 g
EUR 60

DL-Pantolactone

GX6080-25G 25 g
EUR 73.2

DL-Aminoglutethimide

Q-1020.0005 5.0g
EUR 618
Description: Sum Formula: C13H16N2O2; CAS# [125-84-8]

DL-Aminoglutethimide

Q-1020.0025 25.0g
EUR 2358
Description: Sum Formula: C13H16N2O2; CAS# [125-84-8]

DL-Arabinose

TBW01399 20mg Ask for price

dl-nicotine

TBW01730 0.1ml Ask for price

DL-Syringaresinol

TB00152 5mg
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DL-Menthol

TBZ2859 100mg Ask for price

Zinc Finger Protein 627 (ZNF627) Antibody

abx037044-100ug 100 ug
EUR 469.2

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