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Literature DB >> 24426231

Inborn errors of metabolism: challenges and management.

Subir Kumar Das¹.

Abstract

Entities: Disease

Year: 2013 PMID： 24426231 PMCID： PMC3783923 DOI： 10.1007/s12291-013-0371-7

Source DB: PubMed Journal: Indian J Clin Biochem ISSN： 0970-1915

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19 in total

Review 1. Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry.

Authors: Tomris Ozben
Journal: Clin Chem Lab Med Date: 2013-01 Impact factor: 3.694

2. Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

Authors: D A Applegarth; J R Toone; R B Lowry
Journal: Pediatrics Date: 2000-01 Impact factor: 7.124

3. Neonatal screening for amino acidaemias in Karnataka, south India.

Authors: N A Rao; A R Devi; H S Savithri; S V Rao; A H Bittles
Journal: Clin Genet Date: 1988-07 Impact factor: 4.438

4. Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India.

Authors: Inderneel Sahai; Thomas Zytkowicz; Srimannarayna Rao Kotthuri; Anantha Lakshmi Kotthuri; Roger B Eaton; Radha Rama Devi Akella
Journal: Indian J Pediatr Date: 2011-03-17 Impact factor: 1.967

5. Relationships between phenylalanine levels, intelligence and socioeconomic status of patients with phenylketonuria.

Authors: Isabel Pimenta Spínola Castro; Juliana Martins Borges; Heloísa Alves Chagas; Jacqueline Tibúrcio; Ana Lúcia Pimenta Starling; Marcos José Burle de Aguiar
Journal: J Pediatr (Rio J) Date: 2012-03-28 Impact factor: 2.197

6. Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years.

Authors: Sameh Hadj-Taieb; Fehmi Nasrallah; Mohamed B Hammami; Monia Elasmi; Haifa Sanhaji; Feki Moncef; Naziha Kaabachi
Journal: Tunis Med Date: 2012-03

7. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience.

Authors: Gurjit Kaur; Jyoti Srivastav; Suksham Jain; Deepak Chawla; Bir S Chavan; Rajiv Atwal; Gurpreet Randhawa; Avneet Kaur; Rajendra Prasad
Journal: Indian J Pediatr Date: 2010-08-27 Impact factor: 1.967

8. Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.

Authors: Júlia Dénes; Eszter Szabó; Steven L Robinette; Ildikó Szatmári; László Szőnyi; Joachim G Kreuder; Ernst W Rauterberg; Zoltán Takáts
Journal: Anal Chem Date: 2012-11-02 Impact factor: 6.986

Inborn errors of metabolism: challenges and management.

Review 1. Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry.

2. Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

3. Neonatal screening for amino acidaemias in Karnataka, south India.

4. Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India.

5. Relationships between phenylalanine levels, intelligence and socioeconomic status of patients with phenylketonuria.

6. Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years.

7. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience.

8. Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.

Review 9. [Inborn errors of metabolism in adult neurology].

10. Newborn screening in India.

Review 1. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence.

Review 2. Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

Review 3. Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.