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23. Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant. Kaur R; Paria P; Saini AG; Suthar R; Bhatia V; Attri SV Metab Brain Dis; 2021 Aug; 36(6):1413-1417. PubMed ID: 34037900 [TBL] [Abstract][Full Text] [Related]
24. Behavioral changes induced by long-term proline exposure are reversed by antipsychotics in zebrafish. Savio LE; Vuaden FC; Piato AL; Bonan CD; Wyse AT Prog Neuropsychopharmacol Biol Psychiatry; 2012 Mar; 36(2):258-63. PubMed ID: 22019856 [TBL] [Abstract][Full Text] [Related]
25. [Type I Hyperprolinemia - What about the Kidney?]. Rizzo M; Amicone M; Sellitti ML; Marino A; Sannino A; Capuano I; Pisani A G Ital Nefrol; 2023 Dec; 40(6):. PubMed ID: 38156540 [TBL] [Abstract][Full Text] [Related]
27. Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. Humbertclaude V; Rivier F; Roubertie A; Echenne B; Bellet H; Vallat C; Morin D J Child Neurol; 2001 Aug; 16(8):622-3. PubMed ID: 11510941 [TBL] [Abstract][Full Text] [Related]
30. Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. Valle D; Goodman SI; Applegarth DA; Shih VE; Phang JM J Clin Invest; 1976 Sep; 58(3):598-603. PubMed ID: 956388 [TBL] [Abstract][Full Text] [Related]
31. Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis. Motte J; Fisse AL; Grüter T; Schneider R; Breuer T; Lücke T; Krueger S; Nguyen HP; Gold R; Ayzenberg I; Ellrichmann G BMC Neurol; 2019 Dec; 19(1):345. PubMed ID: 31884946 [TBL] [Abstract][Full Text] [Related]
32. Type II hyperprolinemia: a case report. Onenli-Mungan N; Yüksel B; Elkay M; Topaloğlu AK; Baykal T; Ozer G Turk J Pediatr; 2004; 46(2):167-9. PubMed ID: 15214748 [TBL] [Abstract][Full Text] [Related]
36. Hereditary nephropathy, deafness and renal foam cells. WHALEN RE; HUANG S; PESCHEL E; McINTOSH HD Am J Med; 1961 Aug; 31():171-86. PubMed ID: 13784720 [No Abstract] [Full Text] [Related]
37. [Encephalopathies due to inborn errors of the amino acid transport systems]. Guzzetta F Recenti Prog Med; 1972 May; 52(5):483-99. PubMed ID: 4677778 [No Abstract] [Full Text] [Related]
38. [A case of type I hyperprolinemia associated with photogenic epilepsy]. Ishikawa Y; Kameda K; Okabe M; Imai T; Nagaoka M; Minami R No To Hattatsu; 1991 Jan; 23(1):81-6. PubMed ID: 1994998 [TBL] [Abstract][Full Text] [Related]
39. [Familial hyperprolinemia--a case in a family]. Oknińska A; Grygalewicz J; Kowalewska-Kantecka B; Iwańska J Pol Arch Med Wewn; 1974 Feb; 51(2):189-97. PubMed ID: 4816363 [No Abstract] [Full Text] [Related]
40. [A contribution to the syndrome of hereditary hematuria, nephropathy and deafness]. NIETH H Verh Dtsch Ges Inn Med; 1959; 65():664-7. PubMed ID: 14427127 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]