Literature DB >> 4442872

Alpha-aminoadipic aciduria, a non-deleterious inborn metabolic defect.

M H Fischer, T Gerritsen, J M Opitz.   

Abstract

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Year:  1974        PMID： 4442872     DOI： 10.1007/BF00297590

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  2 in total

1.  Ocular anomalies in malformation syndromes.

Authors:  J M Opitz
Journal:  Trans Am Acad Ophthalmol Otolaryngol       Date:  1972 Sep-Oct

2.  Lysine metabolism in mammals.

Authors:  F C Fellows; M H Lewis
Journal:  Biochem J       Date:  1973-10       Impact factor: 3.857
  2 in total
  11 in total

1.  Differential diagnosis of (inherited) amino acid metabolism or transport disorders.

Authors:  W Blom; J G Huijmans
Journal:  Amino Acids       Date:  1992-02       Impact factor: 3.520

2.  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

3.  DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.

Authors:  João Leandro; Tetyana Dodatko; Jan Aten; Natalia S Nemeria; Xu Zhang; Frank Jordan; Ronald C Hendrickson; Roberto Sanchez; Chunli Yu; Robert J DeVita; Sander M Houten
Journal:  Hum Mol Genet       Date:  2020-05-08       Impact factor: 6.150

4.  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

5.  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

6.  Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria.

Authors:  R E Casey; W A Zaleski; M Philp; I S Mendelson; S L MacKenzie
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

7.  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

8.  alpha-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child.

Authors:  A J Manders; C G von Oostrom; J M Trijbels; F J Rutten; W J Kleijer
Journal:  Eur J Pediatr       Date:  1981-03       Impact factor: 3.183

9.  Alpha-aminoadipic aciduria: chemical and enzymatic studies.

Authors:  R G Gray; E M O'Neill; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

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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