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30 results
  1. Glycogen Storage Disease Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26372
    ... seen in GSD Ib. GALT GALE GALK Classic galactosemia , epimerase deficiency galactosemia , & galactokinase deficiency (OMIM 230200 ) AR Liver dysfunction & hypoglycemia ...
  2. Familial Hemophagocytic Lymphohistiocytosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1444
    ... AR Düzenli Kar et al [2019] GALT Classic galactosemia AR Kundak et al [2012] GBA1 ( GBA ) Gaucher ... Karadağ N, Okumuş N. An unusual presentation of galactosemia: hemophagocytic lymphohistiocytosis. Turk J Haematol. 2012;29:401- ...
  3. Cystinosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1400
    ... renal Fanconi syndrome.) Inheritance is X-linked. Classic galactosemia is a disorder of galactose metabolism that can ... 1-phosphate uridyltransferase (GALT). The diagnosis of classic galactosemia is established by detection of elevated erythrocyte galactose- ...
  4. Hereditary Dystonia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1155
    ... cortex on MRI Disorders of galactose metabolism Classic galactosemia and clinical variant galactosemia AR GALT Newborn screening Encephalopathy with uncertain pathogenesis ...
  5. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK558237
    ... NP_000142 ​.2 Scott et al [2022] GALT Galactosemia AR c.563A>G p.Gln188Arg <100% 1/ ... Packman S, Woo SL. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains ...
  6. FOXP2-Related Speech and Language Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368474
    ... injurious behavior, poor impulse control, & aggression) GALT Classic galactosemia AR CAS & dysarthria (Prevalence of motor speech disorder ... of childhood apraxia of speech in youth with galactosemia. J Speech Lang Hear Res. 2011; 54 :487– ...
  7. Excluded Studies - Cerebral palsy in under 25s: assessment and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK533212
    ... and language developmental issues among children with Duarte galactosemia, Genetics in Medicine, 11, 874-9, 2009 Population: children with Duarte galactosemia already diagnosed. Schaefer, G. B., Bodensteiner, J. B., ...
  8. Deoxyguanosine Kinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7040
    ... liver disease. Genetic causes Alagille syndrome Cystic fibrosis Galactosemia Tyrosinemia type 1 Citrin deficiency Inborn errors of ... posted live 10 February 2009 (fs) Original submission References Literature Cited Al-Hussaini A, Faqeih E, El- ...
  9. PMM2-CDG - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... can also be seen in individuals with untreated galactosemia or fructosemia, liver disease, severe infections, and chronic ... posted live 27 February 2004 (dk) Original submission References Literature Cited Akaboshi S, Ohno K, Takeshita K. ...
  10. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1524
    ... associated with tyrosinemia type I [ Grompe 2001 ] or galactosemia and in cases of excessive methionine intake from ... interfering with cellular energy [ Scott et al 2004 ]. References Published Guidelines / Consensus Statements Morris AAM, Kožich V, ...
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