Molecular Genetics and Metabolism

1

Successful combined liver/kidney transplantation from a donor with Pompe disease

Halldorson, J., Kazi, Z., Mekeel, K., Kuo, A., Hassanein, T., Loomba, R., Austin, S., Valasek, M.A., Kishnani, P., Hemming, A.W.

Journal:

Year:

2015

Language:

english

File:

PDF, 491 KB

english, 2015

2

Outcomes of referrals to Child Protective Services for medical neglect in patients with phenylketonuria: Experiences at a single treatment center

Bannick, Allison A., Laufman, Jason D., Edwards, Heidi L., Ventimiglia, June, Feldman, Gerald L.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 156 KB

english, 2015

3

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Carducci, Claudia, Santagata, Silvia, Friedman, Jennifer, Pasquini, Elisabetta, Carducci, Carla, Tolve, Manuela, Angeloni, Antonio, Leuzzi, Vincenzo

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 523 KB

english, 2015

4

Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia

Numa-Kinjoh, Natsuko, Komaru, Keiichi, Ishida, Yoko, Sohda, Miwa, Oda, Kimimitsu

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 710 KB

english, 2015

5

Non-invasive pulmonary function test on Morquio patients

Kubaski, Francyne, Tomatsu, Shunji, Patel, Pravin, Shimada, Tsutomu, Xie, Li, Yasuda, Eriko, Mason, Robert, Mackenzie, William G., Theroux, Mary, Bober, Michael B., Oldham, Helen M., Orii, Tadao, Shaf

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 513 KB

english, 2015

6

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 734 KB

english, 2015

7

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Peters, Heidi, Ferdinandusse, Sacha, Ruiter, Jos P., Wanders, Ronald J.A., Boneh, Avihu, Pitt, James

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 496 KB

english, 2015

8

Genetic and structural variation in the SH2B1 gene in the Belgian population

Aerts, Evi, Beckers, Sigri, Zegers, Doreen, Van Camp, Jasmijn K., Van Hoorenbeeck, Kim, Massa, Guy, Verrijken, An, Mertens, Ilse L., Verhulst, Stijn L., Rooman, Raoul R., Van Gaal, Luc F., Van Hul, Wi

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 434 KB

english, 2015

9

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls

Chapman, Kimberly A., Bush, William S., Zhang, Zhe

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 475 KB

english, 2015

10

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 75 KB

english, 2015

11

Volume 115; Issue 4

Successful combined liver/kidney transplantation from a donor with Pompe disease

Outcomes of referrals to Child Protective Services for medical neglect in patients with phenylketonuria: Experiences at a single treatment center

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia

Non-invasive pulmonary function test on Morquio patients

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Genetic and structural variation in the SH2B1 gene in the Belgian population

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls

Editorial Board

Table of Contents