Literature DB >> 2356868

Maple syrup urine disease (branched chain ketoaciduria).

P A Harper1, P J Healy, J A Dennis.   

Abstract

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Year:  1990        PMID： 2356868      PMCID： PMC1877572     

Source DB:  PubMed          Journal:  Am J Pathol        ISSN： 0002-9440            Impact factor:   4.307


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  11 in total

1.  [MAPLE SYRUP DISEASE WITH FAMILIAL INCIDENCE].

Authors:  P B DIEZEL; K MARTIN
Journal:  Virchows Arch Pathol Anat Physiol Klin Med       Date:  1964-05-22

2.  Neuropathological observations in maple syrup urine disease: branched-chain ketoaciduria.

Authors:  J SILBERMAN; J DANCIS; I FEIGIN
Journal:  Arch Neurol       Date:  1961-10

3.  A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

Authors:  J H MENKES; P L HURST; J M CRAIG
Journal:  Pediatrics       Date:  1954-11       Impact factor: 7.124

4.  Maple syrup urine disease in calves: a clinical, pathological and biochemical study.

Authors:  P A Harper; J A Dennis; P J Healy; G K Brown
Journal:  Aust Vet J       Date:  1989-02       Impact factor: 1.281

5.  Diagnosis of neuraxial oedema in calves.

Authors:  P J Healy; P A Harper; J A Dennis
Journal:  Aust Vet J       Date:  1986-03       Impact factor: 1.281

6.  Hereditary neuraxial edema in Hereford calves.

Authors:  D R Cordy; W P Richards; C Stormont
Journal:  Pathol Vet       Date:  1969

7.  Development of myelin in inherited disorders of amino acid metabolism.

Authors:  A L Prensky; S Carr; H W Moser
Journal:  Arch Neurol       Date:  1968-12

8.  Brain lipids, proteolipids, and free amino acids in maple syrup urine disease.

Authors:  A L Prensky; H W Moser
Journal:  J Neurochem       Date:  1966-09       Impact factor: 5.372

9.  Ultrastructural findings in maple syrup urine disease in Poll Hereford calves.

Authors:  P A Harper; P J Healy; J A Dennis
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

10.  Maple syrup urine disease as a cause of spongiform encephalopathy in calves.

Authors:  P A Harper; P J Healy; J A Dennis
Journal:  Vet Rec       Date:  1986-07-19       Impact factor: 2.695
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  4 in total

Review 1.  Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy.

Authors:  William J Zinnanti; Jelena Lazovic
Journal:  J Inherit Metab Dis       Date:  2011-05-04       Impact factor: 4.982

2.  MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.

Authors:  Wajanat Jan; Robert A Zimmerman; Zhiyue J Wang; Gerard T Berry; Paige B Kaplan; Edward M Kaye
Journal:  Neuroradiology       Date:  2003-05-08       Impact factor: 2.804

3.  Time-dependent Diffusion in Transient Splenial Lesion: Comparison between Oscillating-gradient Spin-echo Measurements and Monte-Carlo Simulation.

Authors:  Tomoko Maekawa; Kouhei Kamiya; Katsutoshi Murata; Thorsten Feiweier; Masaaki Hori; Shigeki Aoki
Journal:  Magn Reson Med Sci       Date:  2020-07-01       Impact factor: 2.471

4.  Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Authors:  Faiqa Imtiaz; Abeer Al-Mostafa; Rabab Allam; Khushnooda Ramzan; Nada Al-Tassan; Asma I Tahir; Nouf S Al-Numair; Mohamed H Al-Hamed; Zuhair Al-Hassnan; Mohammad Al-Owain; Hamad Al-Zaidan; Mohammad Al-Amoudi; Alya Qari; Ameera Balobaid; Moeenaldeen Al-Sayed
Journal:  Mol Genet Metab Rep       Date:  2017-04-07
  4 in total

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