(Q38027777)

27 August 2017

Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist (English)

1 reference

27 August 2017

Marina A Morath

1

1 reference

27 August 2017

Friederike Hörster

series ordinal

2

1 reference

27 August 2017

Sven W Sauer

series ordinal

3

1 reference

27 August 2017

20 July 2012

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27 August 2017

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27 August 2017

28

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27 August 2017

2

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27 August 2017

227-235

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https://scigraph.springernature.com/pub.10.1007/s00467-012-2245-2

27 August 2017

0 references

cites work

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Renal tubular dysfunction in methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Cobalamin C defect: natural history, pathophysiology, and treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Cobalamin C deficiency complicated by an atypical glomerulopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Adverse vascular effects of homocysteine are modulated by endothelium-derived relaxing factor and related oxides of nitrogen

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Homocysteine-induced modulation of tissue plasminogen activator binding to its endothelial cell membrane receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Vascular oxidant stress and inflammation in hyperhomocysteinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Acute management of propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Preoperative dialysis for liver transplantation in methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Methylmalonic and propionic acidaemias: management and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Management of methylmalonic acidaemia by combined liver-kidney transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Current role of liver transplantation for methylmalonic acidemia: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Metabolic stroke in methylmalonic acidemia five years after liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2245-2

Liver transplantation for methylmalonic acidaemia

21 January 2018

1 reference

12 December 2020

Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function

1 reference

12 December 2020

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

1 reference

12 December 2020

Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia

1 reference

12 December 2020

Renal transplantation in a patient with methylmalonic acidaemia

1 reference

12 December 2020

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

1 reference

12 December 2020

Successful dialysis in a boy with methylmalonic acidemia

1 reference

12 December 2020

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

1 reference

12 December 2020

Cobalamin C defect presenting as severe neonatal hyperammonemia

1 reference

12 December 2020

Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis

1 reference

12 December 2020

Renal transplantation in a boy with methylmalonic acidaemia

1 reference

12 December 2020

Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria

1 reference

12 December 2020

10.1007/S00467-012-2245-2

Identifiers

DOI

1 reference

Dimensions Publication ID

27 August 2017

0 references

1 reference