Concepedia

Galactosemia Screening

Galactosemia Screening is a clinical diagnostic method within the domain of metabolic disorder testing that specifically identifies individuals with galactosemia by detecting abnormal levels of galactose or its metabolites in biological samples, thereby enabling early intervention in newborns and at-risk populations.

133

Publications

4.4K

Citations

520

Authors

207

Institutions

Publications per year

2017–2026

7

Parents

Publications

133

Prospective Comparison of Indirect Methods for Detecting Lactase Deficiency

Albert D. Newcomer, Douglas B. McGill, Paul J. Thomas et al. · New England Journal of Medicine · 1975 · 380 citations

, , +10

A simple spot screening test for galactosemia.

Ernest Beutler, Maryellen C. Baluda · PubMed · 1966 · 207 citations

, , +5

A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test.

Elizabeth P. Anderson, Herman Μ. Kalckar, Kiyoshi Kurahashi et al. · PubMed · 1957 · 105 citations

, , +10

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Louis J. Elsas, Sharon D. Langley, Ernest C. Steele et al. · PubMed · 1995 · 98 citations

, , +10

Prognostic value of galactose elimination capacity, aminopyrine breath test, and ICG clearance in patients with cirrhosis

Carlo Merkel, Angelo Gatta, Marco Zoli et al. · Digestive Diseases and Sciences · 1991 · 86 citations

, , +16

1–5 of 133

Authors

520

  1. EB
    Ernest Beutler

    City Of Hope National Medical Center, United States

    6 publications · 451 citations

    6

    h-index

  2. GT
    Gerard T. Berry

    Boston Children's Hospital, United States

    5 publications · 145 citations

    5

    h-index

  3. GN
    George N. Donnell

    Children's Hospital of Los Angeles, United States

    4 publications · 146 citations

    4

    h-index

  4. AM
    Annet M. Bosch

    University of Amsterdam, Netherlands

    4 publications · 134 citations

    4

    h-index

  5. LJ
    Louis J. Elsas

    Emory University, United States

    4 publications · 174 citations

    4

    h-index

1–5 of 520

Institutions

207

  1. Emory University

    Atlanta, United States

    8 h-index

    21 publications

    943 citations

  2. University of Pennsylvania

    Philadelphia, United States

    6 h-index

    18 publications

    805 citations

  3. Temple Street Children's University Hospital

    Dublin, Ireland

    5 h-index

    18 publications

    523 citations

  4. Boston Children's Hospital

    Boston, United States

    4 h-index

    9 publications

    197 citations

  5. Children's Hospital of Philadelphia

    Philadelphia, United States

    4 h-index

    20 publications

    921 citations

  6. Children's Hospital of Los Angeles

    Los Angeles, United States

    4 h-index

    13 publications

    466 citations

  7. Radboud University Nijmegen

    Nijmegen, The Netherlands

    3 h-index

    5 publications

    157 citations

  8. Hiroshima University

    Hiroshima, Japan

    3 h-index

    17 publications

    721 citations

1–8 of 207

Venues

  1. PubMed

    Repository · 21 publications · 829 citations

    14

    h-index

  2. Journal of Inherited Metabolic Disease

    JIMD · 8 publications · 197 citations

    8

    h-index

  3. PEDIATRICS

    8 publications · 203 citations

    8

    h-index

  4. Clinical Chemistry

    7 publications · 261 citations

    7

    h-index

  5. Pediatric Research

    5 publications · 167 citations

    5

    h-index

1–5