• Publications
  • Influence
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
Objective: To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had aExpand
  • 72
  • 4
  • PDF
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycineExpand
  • 72
  • 3
Megalencephalic leukoencephalopathy with cysts without MLC1 defect
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration.Expand
  • 46
  • 3
[The Angelman or "happy puppet" syndrome].
A case of Angelman's or "happy puppet" syndrome is described and detailed analysed, first time in our country. The literature is reviewed. The diagnostic criteria are presented. Evoked potentialExpand
  • 29
  • 1
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasmaExpand
  • 24
  • 1
First case of compound heterozygosity in ALS2 gene in infantile‐onset ascending spastic paralysis with bulbar involvement
To the Editor: Homozygous mutations in the ALS2 gene are causative for autosomal recessive, early-onset forms of upper motor neuron (UMN) diseases described as infantile-onset ascending hereditaryExpand
  • 17
  • 1
[Rett's syndrome].
  • 28
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that wasExpand
  • 71
  • PDF
Neuropsychologic and CT examinations in leukemic patients surviving 10 or more years.
Long-term survivors of childhood leukemia were studied to determine their neuropsychologic status. All had had cranial irradiation 10 or more years before. The results were 1. The IQ and academicExpand
  • 12
[Non-ketotic hyperglycinemia].
Three children with non-ketotic hyperglycinaemia (NKH) is reported. Two patients had typical neonatal form of NKH, one patients had atypical form of NKH. The clinical symptoms laboratory findings andExpand
  • 20
...
1
2
3
...