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Generalized galactose epimerase deficiency

MedGen UID:
657804
•Concept ID:
C0574089
•
Disease or Syndrome
Synonyms: generalised epimerase deficiency galactosemia; generalised GALE deficiency; generalised GALE-D; generalised UDP-galactose-4-epimerase deficiency; generalised uridine diphosphate galactose-4-epimerase deficiency; Generalized epimerase deficiency galactosemia; generalized epimerase deficiency galactosemia; generalized galactose epimerase deficiency; Generalized GALE deficiency; generalized GALE deficiency; Generalized GALE-D; generalized GALE-D; Generalized UDP-galactose-4-epimerase deficiency; generalized UDP-galactose-4-epimerase deficiency; Generalized uridine diphosphate galactose-4-epimerase deficiency; generalized uridine diphosphate galactose-4-epimerase deficiency
SNOMED CT: Generalized uridine diphosphate galactose-4-epimerase deficiency (297237003)
 
Monarch Initiative: MONDO:0017692
Orphanet: ORPHA308487

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized galactose epimerase deficiency

Professional guidelines

PubMed

Pathophysiology and management of classic galactosemic primary ovarian insufficiency.
Hagen-Lillevik S, Rushing JS, Appiah L, Longo N, Andrews A, Lai K, Johnson J
Reprod Fertil 2021 Jul;2(3):R67-R84. Epub 2021 Jun 25 doi: 10.1530/RAF-21-0014. PMID: 35118398Free PMC Article
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K, Bijarnia-Mahay S, Ramprasad VL, Puri RD, Nair S, Sharda S, Saxena R, Kohli S, Kulshreshtha S, Ganguli I, Gujral K, Verma IC
BMC Med Genet 2020 Nov 2;21(1):216. doi: 10.1186/s12881-020-01153-4. PMID: 33138774Free PMC Article
The magnitude and challenge of false-positive newborn screening test results.
Kwon C, Farrell PM
Arch Pediatr Adolesc Med 2000 Jul;154(7):714-8. doi: 10.1001/archpedi.154.7.714. PMID: 10891024

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