Literature DB >> 7144815

Prospective study of maple-syrup-urine disease for the first four days of life.

A M DiGeorge, I Rezvani, L R Garibaldi, M Schwartz.   

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Year:  1982        PMID: 7144815     DOI: 10.1056/NEJM198212093072405

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  8 in total

1.  Leucine and tissue distribution of bulky and small neutral amino acids in rats: dissociation between transport and insulin-mediated effects.

Authors:  C de Céspedes; J G Thoene; K Lowler; H N Christensen
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.

Authors:  J Osterloh; W Cunningham; A Dixon; D Combest
Journal:  Med Toxicol Adverse Drug Exp       Date:  1989 Jul-Aug

3.  Early diagnosis and dietetic management in newborn with maple syrup urine disease. Birth to six weeks.

Authors:  E R Naughten; I P Saul; G Roche; C Mullins
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 4.  Maple syrup urine disease 1954 to 1993.

Authors:  F Peinemann; D J Danner
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  The diagnosis and management of MSUD in Saudi Arabia by using two different methods.

Authors:  S B Subramanyam; S M Qadri; M B Dhalla; P T Ozand
Journal:  Indian J Pediatr       Date:  1990 Sep-Oct       Impact factor: 1.967

6.  Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community.

Authors:  L D Love-Gregory; J A Dyer; J Grasela; R E Hillman; C L Phillips
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

7.  Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.

Authors:  Kevin A. Strauss; D. Holmes Morton
Journal:  Curr Treat Options Neurol       Date:  2003-07       Impact factor: 3.972

8.  Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population.

Authors:  Omar Tabbouche; Amer Saker; Harry Mountain
Journal:  Mol Genet Metab Rep       Date:  2014-07-12
  8 in total

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