Molecular Genetics and Metabolism

1

Dietary management of urea cycle disorders: European practice

Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Fa

Journal:

Year:

2013

Language:

english

File:

PDF, 579 KB

english, 2013

2

Optimal serum phenylalanine for adult patients with phenylketonuria

Okano, Yoshiyuki, Nagasaka, Hironori

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

3

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio

Mokhtarani, M., Diaz, G.A., Rhead, W., Berry, S.A., Lichter-Konecki, U., Feigenbaum, A., Schulze, A., Longo, N., Bartley, J., Berquist, W., Gallagher, R., Smith, W., McCandless, S.E., Harding, C., Roc

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.03 MB

english, 2013

4

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

Yu, Hui, van Karnebeek, Clara, Sinclair, Graham, Hill, Alan, Cui, Hong, Zhang, Victor Wei, Wong, Lee-Jun

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 661 KB

english, 2013

5

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

Møller, Lisbeth Birk, Rea, Gillian, Yasmeen, Saiqa, Skjørringe, Tina, Thorborg, Sidsel Salling, Morrison, Patrick J., Donnelly, Deirdre E.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 183 KB

english, 2013

6

Editorial

McCabe, Ed

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 86 KB

english, 2013

8

Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

Adam, S., Almeida, M.F., Carbasius Weber, E., Champion, H., Chan, H., Daly, A., Dixon, M., Dokoupil, K., Egli, D., Evans, S., Eyskens, F., Faria, A., Ferguson, C., Hallam, P., Heddrich-Ellerbrok, M.,

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 267 KB

english, 2013

9

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

Lieu, Michelle T., Ng, Bobby G., Rush, Jeffrey S., Wood, Tim, Basehore, Monica J., Hegde, Madhuri, Chang, Richard C., Abdenur, Jose E., Freeze, Hudson H., Wang, Raymond Y.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 191 KB

english, 2013

10

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan

Nagao, Masayoshi, Tanaka, Toju, Furujo, Mahoko

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 213 KB

english, 2013

11

Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes

Cleary, Maureen, Trefz, Friedrich, Muntau, Ania C., Feillet, François, van Spronsen, Francjan J., Burlina, Alberto, Bélanger-Quintana, Amaya, Giżewska, Maria, Gasteyger, Christoph, Bettiol, Esther, Bl

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 250 KB

english, 2013

12

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database

Lam, Christina, Carter, Jennifer M., Cederbaum, Stephen D., Neidich, Julie, Gallant, Natalie M., Lorey, Fred, Feuchtbaum, Lisa, Wong, Derek A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 205 KB

english, 2013

13

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 30 KB

english, 2013

14

Treatable inborn errors of metabolism causing neurological symptoms in adults

Sirrs, S.M., Lehman, A., Stockler, S., van Karnebeek, C.D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

15

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome

Nogueira, Célia, Marques, Jorge Sales, Nesti, Claudia, Azevedo, Luisa, Di Lullo, Martina, Meschini, M. Chiara, Orlacchio, Antonio, Santorelli, Filippo M., Vilarinho, Laura

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 351 KB

english, 2013

16

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up

Haarmann, A., Mayr, M., Kölker, S., Baumgartner, E.R., Schnierda, J., Hopfer, H., Devuyst, O., Baumgartner, M.R.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.24 MB

english, 2013

Volume 110; Issue 4

Dietary management of urea cycle disorders: European practice

Optimal serum phenylalanine for adult patients with phenylketonuria

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

Table of Contents

Editorial

Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan

Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database

Editorial Board

Treatable inborn errors of metabolism causing neurological symptoms in adults

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up