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2. Nonketotic hyperglycinemia: a clinical analysis of 19 Finnish patients. von Wendt L; Similä S; Hirvasniemi A; Suvanto E Monogr Hum Genet; 1978; 9():58-64. PubMed ID: 732852 [No Abstract] [Full Text] [Related]
3. [Paracentromeric rupture of the long arm of a 2 chromosome in a 9-month-old girl with cystathioninuria, psychomotor retardation and cataract]. Ferrante E; Bruni L; Grimaldi S Riv Clin Pediatr; 1968; 81(5):612-9. PubMed ID: 5740183 [No Abstract] [Full Text] [Related]
4. Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts. Salih MA; Bender DA; McCreanor GM Pediatrics; 1985 Nov; 76(5):787-93. PubMed ID: 4058988 [TBL] [Abstract][Full Text] [Related]
5. The Marinesco-Sjögren syndrome described a quarter of a century before Marinesco. Superneau D; Wertelecki W; Zellweger H Am J Med Genet; 1985 Nov; 22(3):647-8. PubMed ID: 3904448 [No Abstract] [Full Text] [Related]
6. [Early diagnosis of hereditary metabolic disorders as an effective means of preventing nervous system diseases in children]. Barashnev IuI; Kozlova SI Zh Nevropatol Psikhiatr Im S S Korsakova; 1971; 71(10):1470-4. PubMed ID: 4947459 [No Abstract] [Full Text] [Related]
7. [Cerebral findings in aminoaciduria]. Martin JJ; Van Bogaert L; Guazzi GC Confin Neurol; 1968; 30(2):97-116. PubMed ID: 5698580 [No Abstract] [Full Text] [Related]
12. [Indications of renal and intestinal amino acid malabsorption in Lowe's syndrome]. Colombo JP Schweiz Med Wochenschr; 1971 Jul; 101(26):968-72. PubMed ID: 5143472 [No Abstract] [Full Text] [Related]
13. [Marinesco-Sjögren syndrome]. Yvonneau M; Dupouy F Encephale; 1977; 3(2):165-72. PubMed ID: 891457 [TBL] [Abstract][Full Text] [Related]
14. [Relation between metabolic amino acid defect and familial occurring epilepsy]. Bárdosová G; Králik M; Lazorová A; Mäsiar P; Adam J Psychiatr Neurol Med Psychol Beih; 1970; 13-14():182-90. PubMed ID: 5006283 [TBL] [Abstract][Full Text] [Related]
15. Attempts at use of strychnine sulfate in the treatment of nonketotic hyperglycinemia. MacDermot KD; Nelson W; Reichert CM; Schulman JD Pediatrics; 1980 Jan; 65(1):61-4. PubMed ID: 7355037 [TBL] [Abstract][Full Text] [Related]
16. Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs. Nishimura G; Fukushima Y; Aihara T; Ohashi H; Nishimoto H; Nishimura J Am J Med Genet; 1998 Apr; 77(1):1-7. PubMed ID: 9557884 [TBL] [Abstract][Full Text] [Related]
17. [Aspartylglucosaminuria. A hereditary disease with unusual high incidence among Finns in northern Norway]. Torp KH; Borud O Tidsskr Nor Laegeforen; 1978 Aug; 98(24):1145-6. PubMed ID: 684720 [No Abstract] [Full Text] [Related]
18. [Autosomal recessive diseases with mental retardation]. Fernández-Carvajal I; Telleria JJ; Alonso M; Palencia R; Durán M; López B; Navarro N; de Diego-Otero Y; Blanco A Rev Neurol; 2006 Jan; 42 Suppl 1():S39-43. PubMed ID: 16506131 [TBL] [Abstract][Full Text] [Related]
19. [Disorders of amino acids metabolism in Marinesco-Sjögren syndrom]. Biesold D; Markwardt H Padiatr Grenzgeb; 1968; 7(2):135-9. PubMed ID: 5716358 [No Abstract] [Full Text] [Related]
20. [Hypersarcosinemia with sarcosinuria. Study of a new case]. Willems C; Heusden A; Hainaut A; Chapelle P J Genet Hum; 1971 Mar; 19(1):101-18. PubMed ID: 5158355 [No Abstract] [Full Text] [Related] [Next] [New Search]