Literature DB >> 2972882

Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes.

Y S Shin1, H Steigüber, P Klemm, W Endres, O Schwab, G Wolff.   

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Year:  1988        PMID: 2972882     DOI: 10.1007/bf01804250

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  8 in total

1.  Familial cirrhosis of the liver with storage of abnormal glycogen.

Authors:  D H ANDERSEN
Journal:  Lab Invest       Date:  1956 Jan-Feb       Impact factor: 5.662

2.  Type IV glycogenosis. Patient with absence of a branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glycosyl transferase.

Authors:  G B Reed; J F Dixon; J B Neustein; G N Donnell; B H Landing
Journal:  Lab Invest       Date:  1968-11       Impact factor: 5.662

3.  Branching enzyme-deficiency glycogenosis: studies in therapy.

Authors:  J Fernandes; F Huijing
Journal:  Arch Dis Child       Date:  1968-06       Impact factor: 3.791

4.  Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.

Authors:  B I Brown; D H Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1966-08       Impact factor: 11.205

5.  A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes.

Authors:  Y S Shin; R Ungar; M Rieth; W Endres
Journal:  Clin Chem       Date:  1984-10       Impact factor: 8.327

6.  Nervous system involvement in type IV glycogenosis.

Authors:  K R McMaster; J M Powers; G R Hennigar; H J Wohltmann; G H Farr
Journal:  Arch Pathol Lab Med       Date:  1979-03       Impact factor: 5.534

7.  Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease.

Authors:  D H Brown; B I Brown
Journal:  Biochem Biophys Res Commun       Date:  1983-03-16       Impact factor: 3.575

8.  A juvenile variant of glycogenosis IV (Andersen disease).

Authors:  A S Guerra; O P van Diggelen; F Carneiro; R M Tsou; S Simoes; N T Santos
Journal:  Eur J Pediatr       Date:  1986-08       Impact factor: 3.183

  8 in total
  5 in total

1.  Diagnosis of glycogen storage disease.

Authors:  Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).

Authors:  J M Schröder; R May; Y S Shin; M Sigmund; S Nase-Hüppmeier
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

Review 3.  Glycogen storage diseases: new perspectives.

Authors:  Hasan Ozen
Journal:  World J Gastroenterol       Date:  2007-05-14       Impact factor: 5.742

4.  Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

Authors:  B I Brown; D H Brown
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

5.  Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Authors:  Edyta Szymańska; Sylwia Szymańska; Grażyna Truszkowska; Elżbieta Ciara; Maciej Pronicki; Yoon S Shin; Teodor Podskarbi; Alina Kępka; Mateusz Śpiewak; Rafał Płoski; Zofia T Bilińska; Dariusz Rokicki
Journal:  Arch Med Sci       Date:  2017-12-19       Impact factor: 3.318

  5 in total

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