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Search Results to Johan Lodewijk Van Hove

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Van Hove, Johan

One or more keywords matched the following items that are connected to Van Hove, Johan

Item Type	Name
Academic Article	A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.
Academic Article	Management of a patient with holocarboxylase synthetase deficiency.
Academic Article	Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
Academic Article	Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
Academic Article	A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Academic Article	Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Academic Article	The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Academic Article	An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Academic Article	A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
Academic Article	Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Academic Article	Clinical and biochemical characterization of four patients with mutations in ECHS1.
Academic Article	Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Academic Article	Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Academic Article	The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Academic Article	Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.
Academic Article	Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Academic Article	The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Academic Article	COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.
Academic Article	Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Academic Article	Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.

Search Criteria

Mutation