These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
10. A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Willi SM; Zhang Y; Hill JB; Phelan MC; Michaelis RC; Holden KR Pediatr Res; 1997 Feb; 41(2):210-3. PubMed ID: 9029640 [TBL] [Abstract][Full Text] [Related]
11. Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights. Lipiński P; Ciara E; Jurkiewicz D; Pronicki M; Jurkiewicz E; Bogdańska A; Płoski R; Jankowska I Front Pediatr; 2022; 10():1061043. PubMed ID: 36589157 [TBL] [Abstract][Full Text] [Related]
12. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Gunay-Aygun M; Schwartz S; Heeger S; O'Riordan MA; Cassidy SB Pediatrics; 2001 Nov; 108(5):E92. PubMed ID: 11694676 [TBL] [Abstract][Full Text] [Related]
13. Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. Zapata-Aldana E; Kim DD; Remtulla S; Prasad C; Nguyen CT; Campbell C Eur J Med Genet; 2019 Apr; 62(4):273-277. PubMed ID: 30103036 [TBL] [Abstract][Full Text] [Related]
14. Adenosine kinase deficiency is associated with developmental abnormalities and reduced transmethylation. Moffatt BA; Stevens YY; Allen MS; Snider JD; Pereira LA; Todorova MI; Summers PS; Weretilnyk EA; Martin-McCaffrey L; Wagner C Plant Physiol; 2002 Mar; 128(3):812-21. PubMed ID: 11891238 [TBL] [Abstract][Full Text] [Related]
15. Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. Bishop L; Kanoff R; Charnas L; Krenzel C; Berry SA; Schimmenti LA J Child Neurol; 2008 Jul; 23(7):823-8. PubMed ID: 18658082 [TBL] [Abstract][Full Text] [Related]