Title Journal Title, Volume, Page Full Text Year of Publicationsort icon
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency 2006
Tricho-Hepato-Enteric Syndrome: a Case of Hemochromatosis With Intractable Diarrhea, Dysmorphic Features, and Hair Abnormality American Journal of Medical Genetics Part A Volume 143A, Issue 6, pages 581–583, 15 March 2007 2007
Combined Treatment with Oral metronidazole and N-acetylcysteine is Effective in Ethylmalonic Encephalopathy Nature Medicine 16, 869–871, (2010), doi:10.1038/nm.2188   2010
Propionic Acidemia Mimicking Diabetic Ketoacidosis Brain and Development Volume 33, Issue 5, May 2011, Pages 428–431 2011
Gm1 Gangliosidosis Associated with Neonatal-Onset of Diffuse Ecchymoses and Mongolian Spots Indian J Dermatol. 2011 Jan;56(1):98-100. doi: 10.4103/0019-5154.77567 2011
Ethylmalonic Encephalopathy Associated With Crescentic Glomerulonephritis Metabolic Brain Disease, 05/2012; DOI: 10.1007/s11011-012-9313-y 2012
Severe Persistent Unremitting Dermatitis, Chronic Diarrhea and Hypoalbuminemia In a Child; Hartnup Disease In Setting of Celiac Disease BMC Pediatrics 2014, 14:311 doi:10.1186/s12887-014-0311-6 Published: 20 December 2014   2014
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene Journal of child neurology 07/2014; DOI: 10.1177/0883073814541474 2014
A Distinct Phenotype of Childhood Leukodystrophy Presenting as Absence Seizure J Pediatr Neurosci. 2014 Jan-Apr; 9(1): 63–65. doi:10.4103/1817-1745.131492 2014