Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 6

Results: 16

Vitamin B6 is essential for serine de novo biosynthesis.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 883, doi. 10.1007/s10545-017-0061-3

By:

Ramos, Rúben;
Pras-Raves, Mia;
Gerrits, Johan;
Ham, Maria;
Willemsen, Marcel;
Prinsen, Hubertus;
Burgering, Boudewijn;
Jans, Judith;
Verhoeven-Duif, Nanda

Publication type:

Article

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 875, doi. 10.1007/s10545-017-0064-0

By:

Klouwer, Femke;
Ferdinandusse, Sacha;
Lenthe, Henk;
Kulik, Wim;
Wanders, Ronald;
Poll-The, Bwee;
Waterham, Hans;
Vaz, Frédéric

Publication type:

Article

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 845, doi. 10.1007/s10545-017-0065-z

By:

Sasai, Hideo;
Aoyama, Yuka;
Otsuka, Hiroki;
Abdelkreem, Elsayed;
Naiki, Yasuhiro;
Kubota, Mitsuru;
Sekine, Yuji;
Itoh, Masatsune;
Nakama, Mina;
Ohnishi, Hidenori;
Fujiki, Ryoji;
Ohara, Osamu;
Fukao, Toshiyuki

Publication type:

Article

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 813, doi. 10.1007/s10545-017-0067-x

By:

Frederick, Allison;
Cutler, David;
Fridovich-Keil, Judith

Publication type:

Article

PRKAG2 mutations presenting in infancy.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 823, doi. 10.1007/s10545-017-0072-0

By:

Torok, Rachel;
Austin, Stephanie;
Phornphutkul, Chanika;
Rotondo, Kathleen;
Bali, Deeksha;
Tatum, Gregory;
Wechsler, Stephanie;
Buckley, Anne;
Kishnani, Priya

Publication type:

Article

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS).

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 867, doi. 10.1007/s10545-017-0075-x

By:

Burton, Barbara;
Jego, Virginie;
Mikl, Jaromir;
Jones, Simon

Publication type:

Article

Critical appraisal of genotype assessment in molybdenum cofactor deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 801, doi. 10.1007/s10545-017-0077-8

By:

Hinderhofer, Katrin;
Mechler, Konstantin;
Hoffmann, Georg;
Lampert, Anette;
Mountford, William;
Ries, Markus

Publication type:

Article

K. Sarafoglou, G. F. Hoffmann, K. S. Roth (eds): Pediatric endocrinology and inborn errors of metabolism. Second edition.

Published in:

2017

By:

Schiff, Manuel

Publication type:

Book Review

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 793, doi. 10.1007/s10545-017-0082-y

By:

Manti, Filippo;
Nardecchia, Francesca;
Paci, Sabrina;
Chiarotti, Flavia;
Carducci, Claudia;
Carducci, Carla;
Dalmazzone, Silvia;
Cefalo, Graziella;
Salvatici, Elisabetta;
Banderali, Giuseppe;
Leuzzi, Vincenzo

Publication type:

Article

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 783, doi. 10.1007/s10545-017-0083-x

By:

Abi-Wardé, Marie-Thérèse;
Roda, Célina;
Arnoux, Jean-Baptiste;
Servais, Aude;
Habarou, Florence;
Brassier, Anais;
Pontoizeau, Clément;
Barbier, Valérie;
Bayart, Manuella;
Leboeuf, Virginie;
Chadefaux-Vekemans, Bernadette;
Dubois, Sandrine;
Assoun, Murielle;
Belloche, Claire;
Alili, Jean-Meidi;
Husson, Marie-Caroline;
Lesage, Fabrice;
Dupic, Laurent;
Theuil, Benoit;
Ottolenghi, Chris

Publication type:

Article

The presence of anaemia negatively influences survival in patients with POLG disease.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 861, doi. 10.1007/s10545-017-0084-9

By:

Hikmat, Omar;
Charalampos, Tzoulis;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal;
Brodtkorb, Eylert;
Fiskerstrand, Torunn;
McFarland, Robert;
Rahman, Shamima;
Bindoff, Laurence

Publication type:

Article

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 831, doi. 10.1007/s10545-017-0085-8

By:

Gillingham, Melanie;
Heitner, Stephen;
Martin, Julie;
Rose, Sarah;
Goldstein, Amy;
El-Gharbawy, Areeg;
Deward, Stephanie;
Lasarev, Michael;
Pollaro, Jim;
DeLany, James;
Burchill, Luke;
Goodpaster, Bret;
Shoemaker, James;
Matern, Dietrich;
Harding, Cary;
Vockley, Jerry

Publication type:

Article

Liver involvement in urea cycle disorders: a review of the literature.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 757, doi. 10.1007/s10545-017-0088-5

By:

Bigot, Adrien;
Tchan, Michel;
Thoreau, Benjamin;
Blasco, Hélène;
Maillot, François

Publication type:

Article

News and views.

Published in:

2017

By:

Houten, Sander

Publication type:

Report

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 771, doi. 10.1007/s10545-017-0093-8

By:

Salen, Gerald;
Steiner, Robert

Publication type:

Article

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z

By:

Pronicka, Ewa;
Ropacka-Lesiak, Mariola;
Trubicka, Joanna;
Pajdowska, Magdalena;
Linke, Markus;
Ostergaard, Elsebet;
Saunders, Carol;
Horsch, Sandra;
Karnebeek, Clara;
Yaplito-Lee, Joy;
Distelmaier, Felix;
Õunap, Katrin;
Rahman, Shamima;
Castelle, Martin;
Kelleher, John;
Baris, Safa;
Iwanicka-Pronicka, Katarzyna;
Steward, Colin;
Ciara, Elżbieta;
Wortmann, Saskia

Publication type:

Article