Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients-Reference-Cited by-同舟云学术

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Published:2016 Issue: Volume: Page:85-93
ISSN:2192-8304
Container-title:JIMD Reports
language:
Short-container-title:

Author:

Spitz M. A.,Nguyen M. A.,Roche S.,Heron B.,Milh M.,de Lonlay P.,Lion-François L.,Testard H.,Napuri S.,Barth M.,Fournier-Favre S.,Christa L.,Vianey-Saban C.,Corne C.,Roubertie A.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_550

Reference27 articles.

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2. Arnoux JB, Damaj L, Napuri S et al (2013) Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. J Clin Endocrinol Metab 98(11):4279–4284. doi: 10.1210/jc.2013-2740

3. Atwal PS, Donti TR, Cardon AL et al (2015) Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab 115(2–3):91–94. doi: 10.1016/j.ymgme.2015.04.008

4. Barth M, Serre V, Hubert L et al (2012) Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic acid decarboxylase deficiency. JIMD Rep 3:25–32. doi: 10.1007/8904_2011_43

5. Braütigam C, Wevers RA, Hyland K (2000) The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. J Inherit Metab Dis 23(4):321–324

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