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 |
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2007 |
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 |
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2014 |
Propionic Acidemia Mimicking Diabetic Ketoacidosis |
Brain and Development Volume 33, Issue 5, May 2011, Pages 428–431 |
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2011 |
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 |
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2014 |
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 |
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2011 |
Ethylmalonic Encephalopathy Associated With Crescentic Glomerulonephritis |
Metabolic Brain Disease, 05/2012; DOI: 10.1007/s11011-012-9313-y |
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2012 |
Combined Treatment with Oral metronidazole and N-acetylcysteine is Effective in Ethylmalonic Encephalopathy |
Nature Medicine 16, 869–871, (2010), doi:10.1038/nm.2188 |
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2010 |
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency |
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2006 |
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 |
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2014 |