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Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Among authors: yudkoff m. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.
Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N, Ficicioglu C, Yudkoff M. Bhoj EJ, et al. Among authors: yudkoff m. JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15. JIMD Rep. 2015. PMID: 25681081 Free PMC article.
Intellectual outcome in children with maple syrup urine disease.
Kaplan P, Mazur A, Field M, Berlin JA, Berry GT, Heidenreich R, Yudkoff M, Segal S. Kaplan P, et al. Among authors: yudkoff m. J Pediatr. 1991 Jul;119(1 Pt 1):46-50. doi: 10.1016/s0022-3476(05)81037-6. J Pediatr. 1991. PMID: 2066858 Free article.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group. Posset R, et al. Among authors: yudkoff m. Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13. Ann Neurol. 2019. PMID: 31018246 Free PMC article.
199 results