Literature DB >> 14184314

LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).

R KIIL, T ROKKONES.   

Abstract

Entities:  

Keywords:  AMINOACIDURIA, RENAL; BLOOD PROTEINS; CHILD; CHROMATOGRAPHY; CYSTINE; HISTIDINE; INFANT; ISOLEUCINE; LEUCINE; MAPLE SYRUP URINE DISEASE; PATHOLOGY; VALINE

Mesh：

Substances：

Year:  1964        PMID： 14184314     DOI： 10.1111/j.1651-2227.1964.tb07789.x

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0365-1436            Impact factor:   2.299


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  11 in total

1.  Maple syrup urine disease variant: report on an infant.

Authors:  P Koepp; C Rybak; H W Rüdiger; U Wendel
Journal:  Z Kinderheilkd       Date:  1974-02-11

2.  Family with intermittent maple syrup urine disease.

Authors:  H B Valman; A D Patrick; J W Seakins; J W Platt; D Gompertz
Journal:  Arch Dis Child       Date:  1973-03       Impact factor: 3.791

Review 3.  [Problems of quantitative diagnosis of hereditary metabolic diseases].

Authors:  F Linneweh
Journal:  Klin Wochenschr       Date:  1965-10-15

4.  Creatine kinase activity from rat brain is inhibited by branched-chain amino acids in vitro.

Authors:  Carmen Pilla; Rui Felipe de Oliveira Cardozo; Carlos Severo Dutra-Filho; Angela Terezinha Souza Wyse; Moacir Wajner; Clóvis Milton Duval Wannmacher
Journal:  Neurochem Res       Date:  2003-05       Impact factor: 3.996

5.  Effect of leucine administration on creatine kinase activity in rat brain.

Authors:  Carmen Pilla; Rui Felipe de Oliveira Cardozo; Carlos Severo Dutra-Filho; Angela Terezinha Souza Wyse; Moacir Wajner; Clóvis Milton Duval Wannmacher
Journal:  Metab Brain Dis       Date:  2003-03       Impact factor: 3.584

6.  Maple syrup urine disease: treatment of the acutely ill newborn.

Authors:  G Hammersen; L Wille; H Schmidt; P Lutz; H Bickel
Journal:  Eur J Pediatr       Date:  1978-10-12       Impact factor: 3.183

7.  Variant maple syrup urine disease in mother and daughter.

Authors:  L A Zaleski; J Dancis; R P Cox; J Hutzler; W A Zaleski; A Hill
Journal:  Can Med Assoc J       Date:  1973-08-18       Impact factor: 8.262

8.  An integrative tissue-network approach to identify and test human disease genes.

Authors:  Victoria Yao; Rachel Kaletsky; William Keyes; Danielle E Mor; Aaron K Wong; Salman Sohrabi; Coleen T Murphy; Olga G Troyanskaya
Journal:  Nat Biotechnol       Date:  2018-10-22       Impact factor: 54.908

9.  Outcome of maple syrup urine disease.

Authors:  E R Naughten; J Jenkins; D E Francis; J V Leonard
Journal:  Arch Dis Child       Date:  1982-12       Impact factor: 3.791

10.  Movement disorders in adult surviving patients with maple syrup urine disease.

Authors:  Miryam Carecchio; Susanne A Schneider; Heidi Chan; Robin Lachmann; Philip J Lee; Elaine Murphy; Kailash P Bhatia
Journal:  Mov Disord       Date:  2011-04-11       Impact factor: 10.338
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