Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.
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| Title: | Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan. |
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| Authors: | Ahmed S; Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Akbar F; Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi, Pakistan., DeBerardinis RJ; Children's Medical Center Research Institute at UT Southwestern, Dallas, TX, USA.; Howard Hughes Medical Institute, UT Southwestern, Dallas, TX, USA., Ni M; Children's Medical Center Research Institute at UT Southwestern, Dallas, TX, USA., Afroze B; Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi, Pakistan. |
| Source: | Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Jul 13; Vol. 36 (8), pp. 761-771. Date of Electronic Publication: 2023 Jul 13 (Print Publication: 2023). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2191-0251 |
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| DOI: | 10.1515/jpem-2023-0083 |
