Literature DB >> 6434826

A patient with alpha-ketoadipic and alpha-aminoadipic aciduria.

M Duran, F A Beemer, S K Wadman, U Wendel, B Janssen.   

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Year:  1984        PMID： 6434826     DOI： 10.1007/bf01805803

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.

Authors:  H Przyrembel; D Bachmann; I Lombeck; K Becker; U Wendel; S K Wadman; H J Bremer
Journal:  Clin Chim Acta       Date:  1975-02-08       Impact factor: 3.786

2.  Tryptophan and lysine metabolism in alpha-aminoadipic aciduria.

Authors:  M H Fischer; R R Brown
Journal:  Am J Med Genet       Date:  1980
  2 in total
  12 in total

1.  A study on alpha-ketoadipic aciduria by gas chromatographic-mass spectrometry.

Authors:  Zhen-Wei Xia; Yoshito Inoue; Morimasa Ohse; Toshihiro Shinka; Tomiko Kuhara
Journal:  World J Gastroenterol       Date:  2000-10       Impact factor: 5.742

2.  A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Authors:  Aleix Navarro-Sastre; Frederic Tort; Oliver Stehling; Marta A Uzarska; José Antonio Arranz; Mireia Del Toro; M Teresa Labayru; Joseba Landa; Aida Font; Judit Garcia-Villoria; Begoña Merinero; Magdalena Ugarte; Luis Gonzalez Gutierrez-Solana; Jaume Campistol; Angels Garcia-Cazorla; Julian Vaquerizo; Encarnació Riudor; Paz Briones; Orly Elpeleg; Antonia Ribes; Roland Lill
Journal:  Am J Hum Genet       Date:  2011-11-11       Impact factor: 11.025

3.  α-Ketoadipic Acid and α-Aminoadipic Acid Cause Disturbance of Glutamatergic Neurotransmission and Induction of Oxidative Stress In Vitro in Brain of Adolescent Rats.

Authors:  Janaína Camacho da Silva; Alexandre Umpierrez Amaral; Cristiane Cecatto; Alessandro Wajner; Kálita Dos Santos Godoy; Rafael Teixeira Ribeiro; Aline de Mello Gonçalves; Ângela Zanatta; Mateus Struecker da Rosa; Samanta Oliveira Loureiro; Carmen Regla Vargas; Guilhian Leipnitz; Diogo Onofre Gomes de Souza; Moacir Wajner
Journal:  Neurotox Res       Date:  2017-04-20       Impact factor: 3.911

4.  alpha-Aminoadipic and alpha-ketoadipic aciduria: detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids.

Authors:  C Vianey-Liaud; P Divry; J Cotte; G Teyssier
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

5.  New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.

Authors:  Ashlee R Stiles; Leah Venturoni; Grace Mucci; Naser Elbalalesy; Michael Woontner; Stephen Goodman; Jose E Abdenur
Journal:  JIMD Rep       Date:  2015-07-05

6.  DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

Authors:  Katharina Danhauser; Sven W Sauer; Tobias B Haack; Thomas Wieland; Christian Staufner; Elisabeth Graf; Johannes Zschocke; Tim M Strom; Thorsten Traub; Jürgen G Okun; Thomas Meitinger; Georg F Hoffmann; Holger Prokisch; Stefan Kölker
Journal:  Am J Hum Genet       Date:  2012-11-08       Impact factor: 11.025

7.  Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Authors:  Jacob Hagen; Heleen te Brinke; Ronald J A Wanders; Alida C Knegt; Esmee Oussoren; A Jeannette M Hoogeboom; George J G Ruijter; Daniel Becker; Karl Otfried Schwab; Ingo Franke; Marinus Duran; Hans R Waterham; Jörn Oliver Sass; Sander M Houten
Journal:  J Inherit Metab Dis       Date:  2015-04-10       Impact factor: 4.982

8.  Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria.

Authors:  T Takechi; T Okada; H Wakiguchi; H Morita; T Kurashige; K Sugahara; H Kodama
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Substrate specificity and structure of human aminoadipate aminotransferase/kynurenine aminotransferase II.

Authors:  Qian Han; Tao Cai; Danilo A Tagle; Howard Robinson; Jianyong Li
Journal:  Biosci Rep       Date:  2008-08       Impact factor: 3.840

10.  Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage.

Authors:  M Candito; C Richelme; P Parvy; C Dageville; A Appert; S Bekri; D Rabier; P Chambon; R Mariani; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
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