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PMC Full-Text Search Results

Items: 19

1.
Detection of inherited metabolic diseases in children with mental handicap
Chetna Bhatt, Zarangis Misra, Neelam Goyel
Indian J Clin Biochem. 2008 Jan; 23(1): 10–16. Published online 2008 Mar 6. doi: 10.1007/s12291-008-0004-8
PMCID:
PMC3453658
SummaryPDF–1.2M
2.
CORTISONE IN HYPERTENSIVE VASCULAR DISEASE
George A. Perera, Thomas C. Fleming, Kermit L. Pines, Margaret Crymble
J Clin Invest. 1950 Jun; 29(6): 739–744. doi: 10.1172/JCI102311
PMCID:
PMC436112
SummaryPage BrowsePDF–770K
3.
T
Saunders Comprehensive Veterinary Dictionary. 2021 : 1077–1142. Published online 2020 Oct 16. doi: 10.1016/B978-0-7020-7463-9.50028-8
PMCID:
PMC9771678
ArticlePDF–4.6M
4.
An introduction to human biochemical genetics
Hermann Lehmann
Eugen Rev. 1954 Apr; 46(1): 53–55.
PMCID:
PMC2973566
SummaryPage BrowsePDF–515K
5.
The Value of Splenectomy in Fanconi's Anaemia
R. C. Francis, R. A. Moir, P. N. Swift
Arch Dis Child. 1955 Oct; 30(153): 439–444. doi: 10.1136/adc.30.153.439
PMCID:
PMC2011814
SummaryPage BrowsePDF–1.0M
6.
Screening for inherited metabolic disease in Wales using urine-impregnated filter paper.
D M Bradley
Arch Dis Child. 1975 Apr; 50(4): 264–268. doi: 10.1136/adc.50.4.264
PMCID:
PMC1544450
SummaryPage BrowsePDF–787K
7.
Inherited deficiency of delta-aminolevulinic acid dehydratase.
T D Bird, P Hamernyik, J Y Nutter, R F Labbe
Am J Hum Genet. 1979 Nov; 31(6): 662–668.
PMCID:
PMC1686033
SummaryPage BrowsePDF–675K
8.
Septic Jaundice
D. B. Irwin
Br Med J. 1952 Jun 28; 1(4773): 1379–1382. doi: 10.1136/bmj.1.4773.1379
PMCID:
PMC2023815
SummaryPage BrowsePDF–1.1M
9.
URINARY EXCRETION OF AMINO ACIDS IN PATIENTS WITH CIRRHOSIS OF THE LIVER AND IN NORMAL ADULTS
George J. Gabuzda, Jr., Richard D. Eckhardt, Charles S. Davidson
J Clin Invest. 1952 Nov; 31(11): 1015–1022. doi: 10.1172/JCI102686
PMCID:
PMC436506
SummaryPage BrowsePDF–1.0M
10.
Ascorbic acid and tyrosine metabolism in preterm and small-for-dates infants.
M Mohanram, A Kumar
Arch Dis Child. 1975 Mar; 50(3): 235–237. doi: 10.1136/adc.50.3.235
PMCID:
PMC1544508
SummaryPage BrowsePDF–373K
11.
Changing concepts: Liver replacement for hereditary tyrosinemia and hepatoma
Thomas E. Starzl, Basil J. Zitelli, Byers W. Shaw, JR., Shunzaburo Iwatsuki, J. Carlton Gartner, Robert D. Gordon, J. Jeffrey Malatack, Ira J. Fox, Andrew H. Urbach, David H. Van Thiel
J Pediatr. Author manuscript; available in PMC 2010 Oct 26.
Published in final edited form as: J Pediatr. 1985 Apr; 106(4): 604–606. doi: 10.1016/s0022-3476(85)80081-0
PMCID:
PMC2964149
ArticlePDF–51K
12.
The excretion of l(—)-tyrosine in urine
N. R. Lawrie
Biochem J. 1947; 41(1): 41–44.
PMCID:
PMC1258419
SummaryPage BrowsePDF–653K
13.
Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia
Robert O. Fisch, Edward R. B. McCabe, Doris Doeden, Lawrence J. Koep, Jerry G. Kohlhoff, Arnold Silverman, Thomas E. Starzl
J Pediatr. Author manuscript; available in PMC 2011 Jan 18.
Published in final edited form as: J Pediatr. 1978 Oct; 93(4): 592–596. doi: 10.1016/s0022-3476(78)80893-2
PMCID:
PMC3022511
ArticlePDF–58K
14.
URINARY EXCRETION OF AMINO ACIDS IN PREGNANCY
Evelyn B. Wallraff, Emily C. Brodie, Alice L. Borden
J Clin Invest. 1950 Nov; 29(11): 1542–1544. doi: 10.1172/JCI102395
PMCID:
PMC436202
SummaryPage BrowsePDF–446K
15.
Screening for Inherited Metabolic Disease by Plasma Chromatography (Scriver) in a Large City
D. N. Raine, J. R. Cooke, W. A. Andrews, D. F. Mahon
Br Med J. 1972 Jul 1; 3(5817): 7–13. doi: 10.1136/bmj.3.5817.7
PMCID:
PMC1788502
SummaryPage BrowsePDF–1.8M
16.
Biomarkers, metabonomics, and drug development: Can inborn errors of metabolism help in understanding drug toxicity?
Subrahmanyam Vangala, Alfred Tonelli
AAPS J. 2007 Sep; 9(3): E284–E297. Published online 2007 Jul 20. doi: 10.1208/aapsj0903031
PMCID:
PMC2751476
SummaryPDF–603K
17.
A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine
Grace Medes
Biochem J. 1932; 26(4): 917–940. doi: 10.1042/bj0260917
PMCID:
PMC1260992
SummaryPage BrowsePDF–2.5M
18.
Males with an XYY sex chromosome complement.
W M Brown
J Med Genet. 1968 Dec; 5(4): 341–359. doi: 10.1136/jmg.5.4.341
PMCID:
PMC1468679
SummaryPage BrowsePDF–3.1M
19.
Introduction: Abstracts of poster presentations
Am J Hum Genet. 1991 Oct; 49(Suppl): 93–124.
PMCID:
PMC1683329
SummaryPage BrowsePDF–7.0M

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