Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan-Reference-Cited by-同舟云学术

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Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Published:2019-07-17 Issue: Volume:10 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Wasim Muhammad,Khan Haq Nawaz,Ayesha Hina,Goorden Susanna M. I.,Vaz Frederic M.,van Karnebeek Clara D. M.,Awan Fazli Rabbi

Funder

International Center for Genetic Engineering and Biotechnology

Higher Education Commission, Pakistan

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

Reference49 articles.

1. Inborn errors of metabolism and expanded newborn screening: review and update;Mak;Crit Rev Clin Lab Sci,2013

2. Drug treatment of inborn errors of metabolism: a systematic review;Alfadhel;Arch Dis Child,2013

3. Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives;Tarailo-Graovac;Expert Rev Mol Diagn,2017

4. A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism;Jacob;Anal Chim Acta,2018

5. Metabolic screening and metabolomics analysis in the intellectual developmental disorders Mexico Study;Ibarra-Gonzalez;Salud Publica Mex,2017

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

2. Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and cholesterol cascade systems;Metabolic Brain Disease;2024-05-11

3. Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi – A retrospective chart review;Pakistan Journal of Medical Sciences;2023-12-05

4. Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients;Nucleosides, Nucleotides & Nucleic Acids;2023-11-16

5. High‐performance liquid chromatography‐based assay optimization for the detection of plasma amino acids for applications in metabolic disorders in developing countries;SEPARATION SCIENCE PLUS;2023-09-07

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