Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.

Schecter DR, Donnelly C, White A, Raynes H, Heller G, Rajan D, Saavedra-Matiz CA, Orsini J, Boelens JJ, Matern D, Ganesh J

Open source

DOI
10.3390/ijns12030059
Published
2026 Jul 29
Container
International journal of neonatal screening
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.3390/ijns12030059,
  title = {Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.},
  author = {Schecter DR and Donnelly C and White A and Raynes H and Heller G and Rajan D and Saavedra-Matiz CA and Orsini J and Boelens JJ and Matern D and Ganesh J},
  year = {2026},
  journal = {International journal of neonatal screening},
  doi = {10.3390/ijns12030059},
  url = {https://doi.org/10.3390/ijns12030059}
}

RIS

TY  - JOUR
TI  - Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.
AU  - Schecter DR
AU  - Donnelly C
AU  - White A
AU  - Raynes H
AU  - Heller G
AU  - Rajan D
AU  - Saavedra-Matiz CA
AU  - Orsini J
AU  - Boelens JJ
AU  - Matern D
AU  - Ganesh J
PY  - 2026
JO  - International journal of neonatal screening
DO  - 10.3390/ijns12030059
UR  - https://doi.org/10.3390/ijns12030059
ER  - 

APA

DR, S., C, D., A, W., H, R., G, H., D, R., CA, S., J, O., JJ, B., D, M., & J, G. (2026). Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.. International journal of neonatal screening. https://doi.org/10.3390/ijns12030059

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