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                             10 results found
no title author magazine year volume issue page(s) type
1 A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin Reinstein, Eyal
 2016
 117 1 p. 38-41
4 p.
 article
2 Editorial Board 2016
 117 1 p. IFC-
1 p.
 article
3 Glutamine and hyperammonemic crises in patients with urea cycle disorders Lee, B.
 2016
 117 1 p. 27-32
6 p.
 article
4 High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU) Winn, Shelley R.
 2016
 117 1 p. 5-11
7 p.
 article
5 In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis Opladen, Thomas
 2016
 117 1 p. 19-26
8 p.
 article
6 Low bone mineral density is a common feature of Zellweger spectrum disorders Rush, Eric T.
 2016
 117 1 p. 33-37
5 p.
 article
7 Molybdenum cofactor deficiency Atwal, Paldeep S.
 2016
 117 1 p. 1-4
4 p.
 article
8 Psychiatric disorders in adolescent and young adult patients with phenylketonuria Manti, Filippo
 2016
 117 1 p. 12-18
7 p.
 article
9 Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? Horvath, Gabriella A.
 2016
 117 1 p. 42-48
7 p.
 article
10 Table of Contents 2016
 117 1 p. iii-
1 p.
 article
                             10 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands