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List of works by Ronen Spiegel

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Glycogen storage disease type III in Israel: presentation and long-term outcome

scientific article published on March 2014
Gaucher disease type 3c: New patients with unique presentations and review of the literature

scientific article published on 21 May 2019
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

scientific article published on 13 September 2017
Association of chronic symptomatic neutropenia with the triple A syndrome

scientific article published on 01 January 2005
Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience

scientific article published on September 14, 2015
Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome

scientific article published on March 24, 2012
Establishing hospital admission criteria of pediatric Henoch–Schonlein purpura

scientific article published on February 23, 2014
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

scientific article published on 28 January 2019
Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis

scientific article published on 16 June 2016
Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

Association of prolonged fever and hypernatremia: rare presentation of hypothalamic/third ventricle tumor in a toddler

scientific article published on March 2002
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

scientific article published in April 2017
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis

scientific article published on 17 July 2019
Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis

scientific article
"Bearded infant" appearance on bone and Ga-67 scintigraphy in a child with localized mandibular Caffey's disease

scientific article published in May 2003
Campylobacter gastroenteritis in children in north-eastern Israel comparison with other common pathogens

scientific article published on 02 April 2020
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism

scientific article published on 01 March 2019
Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene

scientific article published on 01 April 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disorders

scientific article published on 15 November 2020
HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL

scientific article published on October 2015
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency

scientific article published on 02 September 2020
Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial

scientific article published on 15 June 2020
Author Correction: Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial

scientific article published on 14 October 2020
Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience

scientific article published in January 2015
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

scientific article published on 01 December 2009
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

scientific article published on 12 January 2019
Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency

scientific article published on 26 June 2014

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