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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Ahmed+S%22">Ahmed S</searchLink>; Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Akbar+F%22">Akbar F</searchLink>; Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22DeBerardinis+RJ%22">DeBerardinis RJ</searchLink>; Children's Medical Center Research Institute at UT Southwestern, Dallas, TX, USA.; Howard Hughes Medical Institute, UT Southwestern, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Ni+M%22">Ni M</searchLink>; Children's Medical Center Research Institute at UT Southwestern, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Afroze+B%22">Afroze B</searchLink>; Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi, Pakistan.
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  Data: <searchLink fieldCode="JN" term="%229508900%22">Journal of pediatric endocrinology & metabolism : JPEM</searchLink> [J Pediatr Endocrinol Metab] 2023 Jul 13; Vol. 36 (8), pp. 761-771. <i>Date of Electronic Publication: </i>2023 Jul 13 (<i>Print Publication: </i>2023).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Walter+de+Gruyter%22">Walter de Gruyter </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>9508900 <i>Publication Model: </i>Electronic-Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2191-0251 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220334018X%22">0334018X </searchLink><i>NLM ISO Abbreviation: </i>J Pediatr Endocrinol Metab <i>Subsets: </i>MEDLINE
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        Value: 10.1515/jpem-2023-0083
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      – Code: eng
        Text: English
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        StartPage: 761
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      – TitleFull: 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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            NameFull: Ahmed S
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            NameFull: Akbar F
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            – D: 13
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              Text: 2023 Jul 13
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