Concepedia

Phosphoglucomutase Deficiency

Phosphoglucomutase Deficiency is a rare inborn error of carbohydrate metabolism characterized by impaired conversion of glucose-1-phosphate to glucose-6-phosphate due to deficient activity of the phosphoglucomutase enzyme, leading to disrupted glycogenolysis and glycolysis.

298

Publications

16.6K

Citations

1.2K

Authors

453

Institutions

Publications per year

2017–2026

30

Variants

Pgm Deficiency

Parents

Publications

298

Sucrose-Specific Induction of the Anthocyanin Biosynthetic Pathway in Arabidopsis

Cinzia Solfanelli, Alessandra Poggi, Elena Loreti et al. · PLANT PHYSIOLOGY · 2005 · 871 citations · Full text

, , +14

Phosphoglucomutase Polymorphism in Man

N. Sṕencer, D. A. HOPKINSON, Harry Harris · Nature · 1964 · 623 citations

, , +5

A Robot-Based Platform to Measure Multiple Enzyme Activities in Arabidopsis Using a Set of Cycling Assays: Comparison of Changes of Enzyme Activities and Transcript Levels during Diurnal Cycles and in Prolonged Darkness[W]

Yves Gibon, Oliver E. Blaesing, Jan Hannemann et al. · The Plant Cell · 2004 · 547 citations · Full text

, , +17

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

R Niehues, Martin Hasilik, Gordon Alton et al. · Journal of Clinical Investigation · 1998 · 428 citations · Full text

, , +11

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 365 citations

, , +11

1–5 of 298

Authors

1.2K

  1. JJ
    Jaak Jaeken

    KU Leuven, Belgium

    12 publications · 1.4K citations

    11

    h-index

  2. ÉM
    Éva Morava

    Radboud University Nijmegen, Netherlands

    11 publications · 573 citations

    11

    h-index

  3. EV
    Emile Van Schaftingen

    UCLouvain, Belgium

    10 publications · 1.4K citations

    10

    h-index

  4. GM
    Gert Matthijs

    KU Leuven, Belgium

    10 publications · 1.1K citations

    10

    h-index

  5. TM
    Thorsten Marquardt

    University Hospital Münster, Germany

    9 publications · 903 citations

    9

    h-index

1–5 of 1.2K

Institutions

453

  1. KU Leuven

    Leuven, Belgium

    16 h-index

    47 publications

    3.8K citations

  2. Max Planck Institute of Molecular Plant Physiology

    Potsdam, Germany

    11 h-index

    48 publications

    8K citations

  3. University College London

    London, United Kingdom

    11 h-index

    31 publications

    2.3K citations

  4. Radboud University Nijmegen

    Nijmegen, The Netherlands

    8 h-index

    25 publications

    1.1K citations

  5. UCLouvain

    Louvain-la-Neuve, Belgium

    8 h-index

    17 publications

    1.4K citations

  6. Sanford Burnham Prebys Medical Discovery Institute

    La Jolla, United States

    8 h-index

    43 publications

    5.7K citations

  7. Mayo Clinic

    Rochester, United States

    8 h-index

    28 publications

    1.3K citations

  8. Max Planck Society

    Munich, Germany

    7 h-index

    29 publications

    1.9K citations

1–8 of 453

Venues

  1. PLANT PHYSIOLOGY

    14 publications · 1.6K citations

    14

    h-index

  2. Journal of Biological Chemistry

    JBC · 15 publications · 1.4K citations

    14

    h-index

  3. PubMed

    Repository · 16 publications · 596 citations

    14

    h-index

  4. Journal of Bacteriology

    JB · 11 publications · 928 citations

    11

    h-index

  5. Human Heredity

    14 publications · 289 citations

    11

    h-index

1–5