β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA (Q92459814)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30886116%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

title

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA (English)

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29 April 2020

1 reference

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29 April 2020

author name string

Marie Falkenberg Smeland

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29 April 2020

Julia Lindgren

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29 April 2020

Per Sikora

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29 April 2020

Hilde Monica Frostad Riise Stensland

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29 April 2020

Jorge Asin-Cayuela

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29 April 2020

publication date

3 June 2019

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Cold Spring Harbor molecular case studies

29 April 2020

published in

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29 April 2020

volume

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29 April 2020

issue

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γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.

29 April 2020

cites work

1 reference

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Canvas: versatile and scalable detection of copy number variants

11 February 2021

1 reference

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Mechanisms underlying structural variant formation in genomic disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.

11 February 2021

1 reference

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Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Beta-mannosidosis: a new cause of spinocerebellar ataxia.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Cloning, sequence, expression and characterization of human beta-mannosidase

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Molecular analysis in two beta-mannosidosis patients: description of a new adult case

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency

11 February 2021

1 reference

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Beta-mannosidosis with angiokeratoma corporis diffusum

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Lysosomal metabolism of glycoproteins

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Beta-mannosidae deficiency in two mentally retarded girls with intractable seizures

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

The frequency of lysosomal storage diseases in The Netherlands.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Human -Mannosidase cDNA Characterization and First Identification of a Mutation Associated with Human -Mannosidosis

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

beta-Mannosidase in human leukocytes and fibroblasts

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Alternative splicing caused by RNA secondary structure.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Human beta-mannosidase deficiency

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Human beta-mannosidase deficiency

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

β‐Mannosidase deficiency in a female infant with epileptic encephalopathy

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6549551

11 February 2021

Identifiers

DOI

10.1101/MCS.A003954

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30886116%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

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29 April 2020

PubMed publication ID

30886116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30886116%20AND%20SRC:MED&resulttype=core&format=json