Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. (Q55417076)

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English	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.	scientific article

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scholarly article

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22 January 2020

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations (English)

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22 January 2020

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metachromatic leukodystrophy

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inferred from title

encephalopathy due to prosaposin deficiency

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Jana Ledvinová

2

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22 January 2020

Martin Hrebicek

3

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22 January 2020

8

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22 January 2020

Ladislav Kuchař

1

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22 January 2020

Lenka Dvořáková

5

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22 January 2020

6

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22 January 2020

7

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22 January 2020

author name string

Helena Mysková

4

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22 January 2020

Milan Elleder

9

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22 January 2020

Margret Petermöller

10

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22 January 2020

Heidi Mayrhofer

11

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22 January 2020

Martin Staudt

12

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22 January 2020

Barbara C Paton

14

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22 January 2020

Klaus Harzer

15

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22 January 2020

Ingeborg Krägeloh-Mann

13

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22 January 2020

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1 February 2009

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22 January 2020

American Journal of Medical Genetics

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22 January 2020

149A

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22 January 2020

613-621

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22 January 2020

4

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22 January 2020

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking

1 reference

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9 July 2018

Shotgun lipidomics: electrospray ionization mass spectrometric analysis and quantitation of cellular lipidomes directly from crude extracts of biological samples

1 reference

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9 July 2018

Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

9 July 2018

Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies

1 reference

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9 July 2018

Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts

1 reference

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9 July 2018

Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

9 July 2018

Activator protein required for the enzymatic hydrolysis of cerebroside sulfate. Deficiency in urine of patients affected with cerebroside sulfatase activator deficiency and identity with activators for the enzymatic hydrolysis of GM1 ganglioside and

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

9 July 2018

Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency

1 reference

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9 July 2018

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

9 July 2018

Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

9 July 2018

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

9 July 2018

Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

9 July 2018

Non-neuronopathic Gaucher disease due to saposin C deficiency.

1 reference

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12 August 2018

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

12 August 2018

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

12 August 2018

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

12 August 2018

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

12 August 2018

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

1 reference

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12 August 2018

A method for the quantitative determination of neutral glycosphingolipids in urine sediment

1 reference

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12 August 2018

Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

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30 November 2018

Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437469

30 November 2018

Quantitative measurement of different ceramide species from crude cellular extracts by electrospray ionization tandem mass spectrometry (ESI-MS/MS)

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19267410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/19267410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variant form of metachromatic leukodystrophy without arylsulfatase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19267410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/19267410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi

1 reference

https://pubmed.ncbi.nlm.nih.gov/19267410

12 December 2020

based on heuristic

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Identifiers

10.1002/AJMG.A.32712

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22 January 2020

release_q7elkcwgrjgevhrelv3tkynndq

1 reference

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24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

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22 January 2020

1 reference

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22 January 2020

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