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American Journal of Clinical Pathology, ISSN 0002-9173, 10/2015, Volume 144, Issue suppl_2, pp. A036 - A036
In this case, pathologist identification of vacuolated lymphocytes on the peripheral blood smear provided the most important diagnostic information, indicating... 
Lymphocytes | Gangliosidosis | Peripheral blood
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 11/2015, Volume 32, Issue 6, pp. e294 - e295
Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue‐grey hyperpigmentation commonly observed in the lumbosacral region of infants.... 
PEDIATRICS | GENE | DISEASE | DERMATOLOGY | Gangliosidosis, GM1 - diagnosis | Biopsy | Humans | Brazil | Female | Infant | Mongolian Spot - diagnosis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 634 - 644
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2012, Volume 46, Issue 3, pp. 178 - 181
Abstract An 8-month-old girl, born to consanguineous parents, presented with developmental delay, decreased muscle tone, disinterest in her surroundings, and... 
Pediatrics | Neurology | Magnetic Resonance Imaging | Dihydropyrimidine Dehydrogenase Deficiency - complications | Dihydropyrimidine Dehydrogenase Deficiency - diagnosis | Gangliosidosis, GM1 - diagnosis | Nerve Fibers, Myelinated - pathology | Gangliosidosis, GM1 - complications | Humans | Brain - pathology | Female | Infant
Journal Article
Journal Article
Clinical Chemistry, ISSN 0009-9147, 09/2013, Volume 59, Issue 9, pp. 1357 - 1368
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 165, Issue 5, pp. 1060 - 1060
Journal Article
Journal Article
Journal Article
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