Volume 39; Issue 5

Journal of Inherited Metabolic Disease

Volume 39; Issue 5

1

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

Prinsen, Hubertus C. M. T., Schiebergen-Bronkhorst, B. G. M., Roeleveld, M. W., Jans, J. J. M., de Sain-van der Velden, M. G. M., Visser, G., van Hasselt, P. M., Verhoeven-Duif, N. M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 442 KB

english, 2016

2

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder

Collardeau-Frachon, Sophie, Cordier, Marie-Pierre, Rossi, Massimiliano, Guibaud, Laurent, Vianey-Saban, Christine

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

3

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Pet

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 605 KB

english, 2016

4

On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism

Ikon, Nikita, Ryan, Robert O.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 440 KB

english, 2016

5

Qualitative urinary organic acid analysis: 10 years of quality assurance

Peters, Verena, Bonham, James R., Hoffmann, Georg F., Scott, Camilla, Langhans, Claus-Dieter

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 251 KB

english, 2016

6

Appropriateness of newborn screening for classic galactosaemia: a systematic review

Varela-Lema, L., Paz-Valinas, L., Atienza-Merino, G., Zubizarreta-Alberdi, R., Villares, R. Vizoso, López-García, M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 542 KB

english, 2016

7

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Posset, Roland, Garcia-Cazorla, Angeles, Valayannopoulos, Vassili, Teles, Elisa Leão, Dionisi-Vici, Carlo, Brassier, Anaïs, Burlina, Alberto B., Burgard, Peter, Cortès-Saladelafont, Elisenda, Dobbelae

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 447 KB

english, 2016

8

Genetic cause and prevalence of hydroxyprolinemia

Staufner, Christian, Haack, Tobias B., Feyh, Patrik, Gramer, Gwendolyn, Raga, Deepthi Ediga, Terrile, Caterina, Sauer, Sven, Okun, Jürgen G., Fang-Hoffmann, Junmin, Mayatepek, Ertan, Prokisch, Holger,

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 429 KB

english, 2016

9

Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice

Hillgartner, Megan A., Coker, Sarah B., Koenig, Ashton E., Moore, Marissa E., Barnby, Elizabeth, MacGregor, Gordon G.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 850 KB

english, 2016

10

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva, Tiemes, Vera, Tiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Souz

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 505 KB

english, 2016

11

A novel method for determining peroxisomal fatty acid β-oxidation

Morita, Masashi, Matsumoto, Shun, Okazaki, Airi, Tomita, Kaito, Watanabe, Shiro, Kawaguchi, Kosuke, Minato, Daishiro, Matsuya, Yuji, Shimozawa, Nobuyuki, Imanaka, Tsuneo

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 620 KB

english, 2016

12

The value of plasma vitamin B6profiles in early onset epileptic encephalopathies

Mathis, Déborah, Abela, Lucia, Albersen, Monique, Bürer, Céline, Crowther, Lisa, Beese, Karin, Hartmann, Hans, Bok, Levinus A., Struys, Eduard, Papuc, Sorina M., Rauch, Anita, Hersberger, Martin, Verh

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 754 KB

english, 2016

13

Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Miller, Marcus J., Kennedy, Adam D., Eckhart, Andrea D., Burrage, Lindsay C., Wulff, Jacob E., Miller, Luke A. D., Milburn, Michael V., Ryals, John A., Beaudet, Arthur L., Sun, Qin, Sutton, V. Reid, E

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 200 KB

english, 2016

14

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency

Dionisi-Vici, Carlo, Shteyer, Eyal, Niceta, Marcello, Rizzo, Cristiano, Pode-Shakked, Ben, Chillemi, Giovanni, Bruselles, Alessandro, Semeraro, Michela, Barel, Ortal, Eyal, Eran, Kol, Nitzan, Haberman

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 778 KB

english, 2016

15

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

Vianey-Saban, Christine, Acquaviva, Cécile, Cheillan, David, Collardeau-Frachon, Sophie, Guibaud, Laurent, Pagan, Cécile, Pettazzoni, Magali, Piraud, Monique, Lamazière, Antonin, Froissart, Roseline

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

16

International Paediatric Mitochondrial Disease Scale

Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katha

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 321 KB

english, 2016

17

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Sou

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

18

Phenotyping GABA transaminase deficiency: a case description and literature review

Louro, Pedro, Ramos, Lina, Robalo, Conceição, Cancelinha, Cândida, Dinis, Alexandra, Veiga, Ricardo, Pina, Raquel, Rebelo, Olinda, Pop, Ana, Diogo, Luísa, Salomons, Gajja S., Garcia, Paula

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 1.47 MB

english, 2016

19

News and views

Houten, Sander M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 200 KB

english, 2016

20

News and views

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 187 KB

english, 2016

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