Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity (Q38862309)

7 September 2017

1 reference

title

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity (English)

1 reference

7 September 2017

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27289364%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Bodo B Beck

1

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8 June 2020

FrancJan van Spronsen

2

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8 June 2020

Arjan Diepstra

3

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8 June 2020

Rolf M F Berger

4

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8 June 2020

publication date

11 June 2016

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7 September 2017

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8 June 2020

volume

32

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8 June 2020

page(s)

733-741

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8 June 2020

issue

5

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Creative Commons Attribution 4.0 International

8 June 2020

copyright license

start time

11 June 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1007/s00467-016-3399-0

0 references

cites work

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9 September 2017

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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

9 September 2017

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Etiology of potentially primordial biomolecular structures: from vitamin B12 to the nucleic acids and an inquiry into the chemistry of life's origin: a retrospective

9 September 2017

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Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

9 September 2017

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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

9 September 2017

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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

9 September 2017

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Inborn errors of cobalamin absorption and metabolism

9 September 2017

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Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

9 September 2017

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Thrombotic microangiopathy: new insights

9 September 2017

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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

9 September 2017

1 reference

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Hydroxocobalamin dose escalation improves metabolic control in cblC.

9 September 2017

1 reference

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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

9 September 2017

1 reference

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Decyanation of vitamin B12 by a trafficking chaperone

9 September 2017

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The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

9 September 2017

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Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

9 September 2017

1 reference

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B12 trafficking in mammals: A for coenzyme escort service

9 September 2017

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Disorders of cobalamin (vitamin B12) metabolism: emerging concepts in pathophysiology, diagnosis and treatment

9 September 2017

1 reference

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Current hematological findings in cobalamin deficiency. A study of 201 consecutive patients with documented cobalamin deficiency.

9 September 2017

1 reference

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Risks and side effects of therapy with plasma and plasma fractions

9 September 2017

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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

9 September 2017

1 reference

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Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation

9 September 2017

1 reference

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Hemolytic-uremic syndrome: bilateral necrosis of the renal cortex in acute acquired hemolytic anemia

9 September 2017

1 reference

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Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy

9 September 2017

1 reference

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Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period

9 September 2017

1 reference

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Normalization of plasma vitamin B12 concentration by intranasal hydroxocobalamin in vitamin B12-deficient patients

9 September 2017

1 reference

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Cobalamin (coenzyme B12): synthesis and biological significance

9 September 2017

1 reference

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Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Haemolytic uraemic syndrome: prognostic factors in children over 3 years of age.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Anti-leukemic potential of methyl-cobalamin inactivation by nitrous oxide

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Cobalamin C defect associated with hemolytic-uremic syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Cobalamin C defect presenting with isolated pulmonary hypertension.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Severe combined immunodeficiency resulting from mutations in MTHFD1.

22 August 2018

1 reference

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Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Cobalamin C deficiency complicated by an atypical glomerulopathy

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5368212

Nitrous oxide degradation by cobalamin-dependent methionine synthase: characterization of the reactants and products in the inactivation reaction.

22 August 2018

1 reference

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Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening

22 August 2018

1 reference

12 December 2020

Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology

1 reference

12 December 2020

[Combined methylmalonic acidemia and homocystinuria; a case report]

1 reference

12 December 2020

[Congenital anomaly of the metabolism of vitamin B 12. Histopathological study]

1 reference

12 December 2020

The Mmachc gene is required for pre-implantation embryogenesis in the mouse

1 reference

12 December 2020

10.1007/S00467-016-3399-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27289364%20AND%20SRC:MED&resulttype=core&format=json

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8 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27289364%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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