Literature DB >> 4551928

Inborn errors of metabolism: principles and their applications.

L Pinksy.   

Abstract

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Year:  1972        PMID: 4551928      PMCID: PMC1940485     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN: 0008-4409            Impact factor:   8.262


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  70 in total

1.  Further studies on leukocyte phosphorylase in glycogen storage disease.

Authors:  H E WILLIAMS; J B FIELD
Journal:  Metabolism       Date:  1963-05       Impact factor: 8.694

2.  In utero diagnosis of Niemann-Pick disease.

Authors:  C J Epstein; R O Brady; E L Schneider; R M Bradley; D Shapiro
Journal:  Am J Hum Genet       Date:  1971-09       Impact factor: 11.025

3.  I-cell disease: multiple lysosomal-enzyme defect.

Authors:  J Lightbody; U Wiesmann; B Hadorn; N Herschkowitz
Journal:  Lancet       Date:  1971-02-27       Impact factor: 79.321

4.  A genetic cell marker in cystic fibrosis of the pancreas.

Authors:  B S Danes; A G Bearn
Journal:  Lancet       Date:  1968-05-18       Impact factor: 79.321

5.  Mannosidosis: a clinical and histopathologic study.

Authors:  B Kjellman; I Gamstorp; A Brun; P A Ockerman; B Palmgren
Journal:  J Pediatr       Date:  1969-09       Impact factor: 4.406

6.  Newer procedures in the preconceptional, prenatal and early postnatal diagnosis of birth defects.

Authors:  H L Nadler
Journal:  Birth Defects Orig Artic Ser       Date:  1970-05

7.  Excessive production of uric acid in type I glycogen storage disease.

Authors:  W N Kelley; F M Rosenbloom; J E Seegmiller; R R Howell
Journal:  J Pediatr       Date:  1968-04       Impact factor: 4.406

8.  Childbearing by a galactosemic woman.

Authors:  T F Roe; J G Hallatt; G N Donnell; W G Ng
Journal:  J Pediatr       Date:  1971-06       Impact factor: 4.406

9.  Effect of sodium phenobarbital on bilirubin metabolism in an infant with congenital, nonhemolytic, unconjugated hyperbilirubinemia, and kernicterus.

Authors:  J F Crigler; N I Gold
Journal:  J Clin Invest       Date:  1969-01       Impact factor: 14.808

10.  Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

Authors:  H L Nadler; C M Chacko; M Rachmeler
Journal:  Proc Natl Acad Sci U S A       Date:  1970-10       Impact factor: 11.205

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