142 related articles for article (PubMed ID: 4151599)
1. Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities.
Harper PS
Acta Univ Carol Med Monogr; 1973; 56():159-67. PubMed ID: 4151599
[No Abstract] [Full Text] [Related]
2. Differential diagnosis and diseases due to enzyme changes.
Martin-DeLeon PA
Del Med J; 1979 May; 51(5):267-70, 276-81. PubMed ID: 110628
[No Abstract] [Full Text] [Related]
3. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Güttler F
Acta Paediatr Scand Suppl; 1980; 280():1-80. PubMed ID: 7006308
[No Abstract] [Full Text] [Related]
4. Biochemical factors in mental retardation.
Hsia DY
Proc Annu Meet Am Psychopathol Assoc; 1967; 56():28-44. PubMed ID: 4966303
[No Abstract] [Full Text] [Related]
5. Understanding inherited metabolic disease.
Nyhan WL
Clin Symp; 1980; 32(5):1-36. PubMed ID: 6113913
[No Abstract] [Full Text] [Related]
6. [Mental retardation and hereditary enzymopathy (review)].
D'iachkova AIa; Lebedev BV
Zh Nevropatol Psikhiatr Im S S Korsakova; 1971; 71(10):1588-93. PubMed ID: 5003148
[No Abstract] [Full Text] [Related]
7. Medical physiopathology, enzymology and diagnosis.
Frézal J
Monogr Hum Genet; 1972; 6():37-49. PubMed ID: 4663914
[No Abstract] [Full Text] [Related]
8. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Bartholomé K; Byrd DJ; Kaufman S; Milstien S
Pediatrics; 1977 May; 59(5):757-61. PubMed ID: 300866
[TBL] [Abstract][Full Text] [Related]
9. [Hyperphenylalaninemia].
Hyánek J; Seemanová E; Sádlová I; Mrastíková H; Wünschová N; Hoza J; Zelingerová J
Cas Lek Cesk; 1971; 110(15):337-41. PubMed ID: 5554915
[No Abstract] [Full Text] [Related]
10. [Detection of congenital metabolic diseases with mental retardation].
Colombo JP
Rev Otoneuroophtalmol; 1971 Nov; 43(7):328-33. PubMed ID: 5159706
[No Abstract] [Full Text] [Related]
11. Aminoacidurias due to inherited disorders of metabolism (first of two parts).
Frimpter GW
N Engl J Med; 1973 Oct; 289(16):835-41. PubMed ID: 4587240
[No Abstract] [Full Text] [Related]
12. Screening for metabolic diseases in New South Wales.
Wilcken B; Smith A; Gaha TJ; McLeay AC; Brown DA
Med J Aust; 1973 Jun; 1(23):1129-33. PubMed ID: 4725445
[No Abstract] [Full Text] [Related]
13. Biopterin-responsive hyperphenylalaninemia.
Kaufman S
J Nutr Sci Vitaminol (Tokyo); 1992; Spec No():601-6. PubMed ID: 1297822
[No Abstract] [Full Text] [Related]
14. Alteration of purine control mechanisms in patients with the Lesch-Nyhan mutation.
Benke PJ
Wis Med J; 1971 Jul; 70(7):174-5. PubMed ID: 5560233
[No Abstract] [Full Text] [Related]
15. The dietary management of inborn errors of metabolism.
Collins JE; Leonard JV
Hum Nutr Appl Nutr; 1985 Aug; 39(4):255-72. PubMed ID: 3900002
[TBL] [Abstract][Full Text] [Related]
16. Preventive control of the Lesch-Nyhan syndrome.
Van Heeswijk PJ; Blank CH; Seegmiller JE; Jacobson CB
Obstet Gynecol; 1972 Jul; 40(1):109-13. PubMed ID: 5044927
[No Abstract] [Full Text] [Related]
17. [Varience of phenotypic expression in hereditary neurological disorders (author's transl)].
Arima M
No To Shinkei; 1979 May; 31(5):439-43. PubMed ID: 486265
[No Abstract] [Full Text] [Related]
18. In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
Zekanowsk C; Perez B; Desviat LR; Wiszniewski W; Ugarte M
Acta Biochim Pol; 2000; 47(2):365-9. PubMed ID: 11051201
[TBL] [Abstract][Full Text] [Related]
19. Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome.
Pehlke DM; McDonald JA; Holmes EW; Kelley WN
J Clin Invest; 1972 Jun; 51(6):1398-404. PubMed ID: 5024037
[TBL] [Abstract][Full Text] [Related]
20. Austria newborn screening programme for inborn errors of metabolism.
Thalhammer O
Acta Univ Carol Med Monogr; 1973; 56():79-82. PubMed ID: 4791784
[No Abstract] [Full Text] [Related]
[Next] [New Search]