List of works - Gabriella A Horvath

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

scientific article published on 28 January 2014

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

scientific article published on 27 January 2020

Correlation Between Salivary, Platelet and Central Serotonin Levels in Children

scientific article published on 01 March 2020

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

scientific article published on 01 September 2019

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

scientific article published on 7 February 2017

Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency

scientific article published on 22 April 2016

Failure of Repeated Cyclophosphamide Pulse Therapy in Childhood Cerebral X-Linked Adrenoleukodystrophy ⬇️

scientific article published on March 19, 2012

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.

scientific article published on 19 October 2011

Improved strength on 5-hydroxytryptophan and carbidopa in spinal cord atrophy.

scientific article published on 27 April 2017

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

scientific article published in January 2018

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

scientific article published on 23 January 2013

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

scientific article

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

scientific article published on 23 April 2012

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

scientific article published on 14 January 2020

Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts

article

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

scientific article published on 17 November 2015

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

scientific article (publication date: December 2016)

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report

scientific article published on 16 January 2012

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

scientific article published on 29 May 2013

List of works by Gabriella A Horvath