List of works - Carmen Gómez-Lado

16p11.2 microdeletion associated to early onset benign childhood seizures

scientific article published in January 2013

A Xq21.31 duplication without features of Prader-Willi syndrome

scientific article published on 01 February 2013

Abnormal growth in mitochondrial disease

scientific article published on 15 February 2010

Association between autistic spectrum and mitochondrial pathology

scientific article published in July 2008

Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.

scientific article

Copy number variation analysis of patients with intellectual disability from North-West Spain.

scientific article published on 12 May 2017

Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome

scientific article published on 01 November 2006

Evolution of subclinical hypothyroidism in children treated with antiepileptic drugs.

scientific article published in December 2007

How valuable are genetic studies in paediatric neurology?

scientific article published in January 2008

Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome

scientific article published in February 2004

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: a late onset variant of PCH-1?

scientific article

Interstitial microdeletions including the chromosome band 4q13.2 and theUBA6gene as possible causes of intellectual disability and behavior disorder

article

Intrathecal baclofen for progressive neurological disease in children

scientific article published on 20 August 2012

Juvenile xanthogranuloma of the cauda equina

scientific article published on 01 February 2009

Microdeletion 2q23.1 and syndromic findings

scientific article published in November 2013

Muscle myostatin expression in children with muscle diseases

scientific article published on 01 January 2007

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

scientific article published on 22 February 2011

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.

scientific article

Respiratory chain deficiency in Aicardi-Goutières syndrome

scientific article published on 01 August 2006

Retrospective analysis of the effect of a vagus nerve stimulator implanted in paediatric patients with refractory epilepsy

scientific article

Reversible posterior leukoencephalopathy syndrome: an infrequent complication in the course of haemolytic-uremic syndrome

scientific article

Serum biotinidase activity in children treated with valproic acid and carbamazepine.

scientific article

The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity

scientific article published on 03 June 2011

Treatment of mitochondrial encephalomyopathies with a xanthine oxidase inhibitor

scientific article published on 01 November 2006

[Cerebellar ataxia of Norman-Jaeken: two additional Spanish patients]

scientific article published on 01 November 2006

[Clinical and genetic aspects of 22q13.3 deletion syndrome]

scientific article published on 01 September 2007

[Glucose transporter type 1 deficiency: a treatable neuro-metabolic disorder]

scientific article published on 01 September 2008

[Juvenile Alpers disease].

scientific article

[Non-progressive congenital ataxias]

scientific article published on 01 November 2006

[Pontocerebellar hypoplasia type 1: a case report]

scientific article published on 01 March 2007

[Pontocerebellar hypoplasia type I and mitochondrial pathology]

scientific article published on 01 November 2007

[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]

scientific article published on 01 September 2006

[Selective mutism and mitochondrial disease: a description of a new association]

scientific article published on 01 October 2010

[The neuroprotective effect of pre and perinatal nutritional factors on neurodevelopment]

scientific article published on 01 May 2007

List of works by Carmen Gómez-Lado

16p11.2 microdeletion associated to early onset benign childhood seizures

A Xq21.31 duplication without features of Prader-Willi syndrome

Abnormal growth in mitochondrial disease

Association between autistic spectrum and mitochondrial pathology

Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.

Copy number variation analysis of patients with intellectual disability from North-West Spain.

Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome

Evolution of subclinical hypothyroidism in children treated with antiepileptic drugs.

How valuable are genetic studies in paediatric neurology?

Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: a late onset variant of PCH-1?

Interstitial microdeletions including the chromosome band 4q13.2 and theUBA6gene as possible causes of intellectual disability and behavior disorder

Intrathecal baclofen for progressive neurological disease in children

Juvenile xanthogranuloma of the cauda equina

Microdeletion 2q23.1 and syndromic findings

Muscle myostatin expression in children with muscle diseases

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.

Respiratory chain deficiency in Aicardi-Goutières syndrome

Retrospective analysis of the effect of a vagus nerve stimulator implanted in paediatric patients with refractory epilepsy

Reversible posterior leukoencephalopathy syndrome: an infrequent complication in the course of haemolytic-uremic syndrome

Serum biotinidase activity in children treated with valproic acid and carbamazepine.

The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity

Treatment of mitochondrial encephalomyopathies with a xanthine oxidase inhibitor

[Cerebellar ataxia of Norman-Jaeken: two additional Spanish patients]

[Clinical and genetic aspects of 22q13.3 deletion syndrome]

[Glucose transporter type 1 deficiency: a treatable neuro-metabolic disorder]

[Juvenile Alpers disease].

[Non-progressive congenital ataxias]

[Pontocerebellar hypoplasia type 1: a case report]

[Pontocerebellar hypoplasia type I and mitochondrial pathology]

[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]

[Selective mutism and mitochondrial disease: a description of a new association]

[The neuroprotective effect of pre and perinatal nutritional factors on neurodevelopment]