Literature DB >> 14264314

HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

N A CARSON, C E DENT, C M FIELD, G E GAULL.   

Abstract

Keywords:  ABNORMALITIES; ADOLESCENCE; AMINO ACID METABOLISM, INBORN ERRORS; BLOOD CHEMICAL ANALYSIS; BONE DISEASES; BRAIN DISEASES; BRAIN ENZYMOLOGY; CARDIOVASCULAR DISEASES; CEREBROSPINAL FLUID; CHILD; CHROMATOGRAPHY; EYE DISEASES; FACIAL EXPRESSION; FATTY LIVER; FOOT DISEASES; GENETICS, HUMAN; HOMOCYSTINURIA; HYDRO-LYASES; INFANT; LENS, CRYSTALLINE; LIVER ENZYMOLOGY; MENTAL RETARDATION; METABOLISM; METHIONINE; URINE

Mesh:

Substances:

Year:  1965        PMID: 14264314     DOI: 10.1016/s0022-3476(65)80121-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  31 in total

1.  Histopathology of the liver in Down's syndrome.

Authors:  L B Seeff; J Levitsky; P W Tillman; M L Perou; H J Zimmerman
Journal:  Am J Dig Dis       Date:  1967-11

2.  Importance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis.

Authors:  K S McCully
Journal:  Am J Pathol       Date:  1970-04       Impact factor: 4.307

3.  [A case of homocystinuria with predominating musculosceletal system].

Authors:  K Szepesi; J Nábrády
Journal:  Arch Orthop Unfallchir       Date:  1973-03-26

4.  Skeletal fingings in homocystinuria: a collaborative study.

Authors:  H Schedewie; E Willich; H Gröbe; H Schmidt; K M Müller
Journal:  Pediatr Radiol       Date:  1973-03

5.  Pupil-block glaucoma in homocystinuria.

Authors:  S S Johnston
Journal:  Br J Ophthalmol       Date:  1968-03       Impact factor: 4.638

6.  The nutrigenetics of hyperhomocysteinemia: quantitative proteomics reveals differences in the methionine cycle enzymes of gene-induced versus diet-induced hyperhomocysteinemia.

Authors:  Patricia M DiBello; Sanjana Dayal; Suma Kaveti; Dongmei Zhang; Michael Kinter; Steven R Lentz; Donald W Jacobsen
Journal:  Mol Cell Proteomics       Date:  2009-12-14       Impact factor: 5.911

Review 7.  Epidemiology of venous thromboembolism.

Authors:  W W Coon
Journal:  Ann Surg       Date:  1977-08       Impact factor: 12.969

8.  Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  O Reish; D Townsend; S A Berry; M Y Tsai; R A King
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

9.  Homocystine-induced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesis.

Authors:  L A Harker; R Ross; S J Slichter; C R Scott
Journal:  J Clin Invest       Date:  1976-09       Impact factor: 14.808

10.  Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients.

Authors:  H Gröbe
Journal:  Eur J Pediatr       Date:  1980-12       Impact factor: 3.183

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