(Q48516490)

12 February 2018

title

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria (English)

1 reference

12 February 2018

hypertrophic cardiomyopathy

main subject

1 reference

1 reference

5

1 reference

12 February 2018

Enrico Bertini

10

1 reference

12 February 2018

Giulia Tozzi

Giulia Tozzi

9

0 references

Adele D'Amico

Adele D'Amico

8

0 references

Carlo Dionisi-Vici

Carlo Dionisi-Vici

13

0 references

Ronald J A Wanders

12

Ronald J A Wanders

1 reference

12 February 2018

Filippo Maria Santorelli

6

Filippo M Santorelli

1 reference

12 February 2018

author name string

Gabriella Di Rosa

1

1 reference

12 February 2018

Federica Deodato

2

1 reference

12 February 2018

Ference J Loupatty

3

1 reference

12 February 2018

Cristiano Rizzo

4

1 reference

12 February 2018

Sara Boenzi

7

1 reference

12 February 2018

Andrea Maiorana

11

1 reference

12 February 2018

publication date

30 May 2006

1 reference

12 February 2018

Journal of Inherited Metabolic Disease

published in

1 reference

12 February 2018

volume

29

1 reference

12 February 2018

issue

4

1 reference

12 February 2018

page(s)

546-550

1 reference

12 February 2018

https://scigraph.springernature.com/pub.10.1007/s10545-006-0279-y

exact match

0 references

cites work

3-Methylglutaconic Acidemia in Smith-Lemli-Opitz Syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0279-Y

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

21 January 2018

1 reference

12 December 2020

Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I

1 reference

12 December 2020

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

1 reference

12 December 2020

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

1 reference

12 December 2020

Oxidative abnormalities in Menkes disease

1 reference

12 December 2020

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1 reference

12 December 2020

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

1 reference

12 December 2020

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

1 reference

12 December 2020

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

1 reference

12 December 2020

Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).

1 reference

12 December 2020

Multiple syndromes of 3-methylglutaconic aciduria

1 reference

12 December 2020

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

1 reference

12 December 2020

Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

1 reference

12 December 2020

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features

1 reference

12 December 2020

Organic aciduria in Pearson syndrome

1 reference

12 December 2020

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry

1 reference

12 December 2020

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

1 reference

12 December 2020

10.1007/S10545-006-0279-Y

Identifiers

DOI

1 reference

12 February 2018

1 reference

12 February 2018