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Quoted phrase not found in phrase index: "Omphalocele, autosomal"
Page 1
Congenital hypothyroidism clinical aspects and late consequences.
Büyükgebiz A. Büyükgebiz A. Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:185-90; discussion 190. Pediatr Endocrinol Rev. 2003. PMID: 16444157 Review.
Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, consistent with a single gene mutation. ...CH neonates are usually symptom-free and the most encountered symptoms are prolonged jaundice, large …
Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, cons …
Role of rehabilitation in Hurler's syndrome.
Mishra SR, Shastri M, Ramesh J. Mishra SR, et al. J Back Musculoskelet Rehabil. 2017;30(3):635-639. doi: 10.3233/BMR-150317. J Back Musculoskelet Rehabil. 2017. PMID: 27911282
It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological …
It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented w …
Hyperekplexia: pedigree studies in two families.
Hayashi T, Tachibana H, Kajii T. Hayashi T, et al. Am J Med Genet. 1991 Aug 1;40(2):138-43. doi: 10.1002/ajmg.1320400203. Am J Med Genet. 1991. PMID: 1897565
These 9 individuals had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling episodes, nocturnal myoclonus and an easily elicited head retraction reflex, hip dislocation, and umbilical hernia. Treatment wi …
These 9 individuals had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling ep …