Literature DB >> 6434860

Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.

M Di Rocco, A Superti-Furga, P Durand, R Cerone, C Romano, C Bachmann, R Baumgartner.   

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Year:  1984        PMID： 6434860     DOI： 10.1007/978-94-009-5612-4_34

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


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  7 in total

1.  Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.

Authors:  N Ananth; G S Praveen Kumar
Journal:  Indian J Clin Biochem       Date:  2003-07

2.  "Cerebral" lactic acidosis and cerebrospinal fluid pH.

Authors:  A Superti-Furga
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

3.  "Cerebral" lactic acidosis and biotinidase deficiency.

Authors:  J Jaeken; P Casaer
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

4.  Cerebrospinal fluid organic acids in biotinidase deficiency.

Authors:  M Duran; E R Baumgartner; T M Suormala; L Bruinvis; L Dorland; J A Smeitink; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  Cerebral metabolic change after treatment in biotinidase deficiency.

Authors:  I T Lott; S Lottenberg; W L Nyhan; M J Buchsbaum
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Cerebral metabolic changes in biotinidase deficiency.

Authors:  M Schürmann; V Engelbrecht; K Lohmeier; H G Lenard; U Wendel; J Gärtner
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

7.  Rett syndrome revisited: a patient with biotin dependency.

Authors:  C Bachmann; J Schaub; J P Colombo; B J Burri; L Sweetman; B Wolf
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183
  7 in total

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