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1,370 results
  • GeneReviews® [BOOK]
  • BOOKUniversity of Washington, Seattle: Seattle (WA)
  • Adam MP, Ardinger HH, … Amemiya ASajorda BJ, Gonzalez-Gandolfi CX, … Kalish JM
  • Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macrog...
  • ENT and mucopolysaccharidoses. [Review]
  • IJItal J Pediatr 2018 Nov 16; 44(Suppl 2):127
  • Bianchi PM, Gaini R, Vitale S
  • The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Ove...
  • Amyloidosis Presenting with Macroglossia. [Journal Article]
  • CCureus 2018 Aug 22; 10(8):e3185
  • Shahbaz A, Aziz K, … Sachmechi I
  • Macroglossia is an uncommon condition that causes cosmetic and functional disabilities. We present a case of a 67-year-old patient with the past medical history of vitamin B12 deficiencies who presen...
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