Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 5

Results: 17

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 751, doi. 10.1007/s10545-017-0041-7

By:

Bellusci, M.;
Quijada-Fraile, P.;
Barrio-Carreras, D.;
Martin-Hernandez, E.;
Garcia-Silva, M.;
Merinero, B.;
Perez, B.;
Hernandez-Lain, A.

Publication type:

Article

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 745, doi. 10.1007/s10545-017-0036-4

By:

Balasubramaniam, S.;
Riley, L.;
Bratkovic, D.;
Ketteridge, D.;
Manton, N.;
Cowley, M.;
Gayevskiy, V.;
Roscioli, T.;
Mohamed, M.;
Gardeitchik, T.;
Morava, E.;
Christodoulou, J.

Publication type:

Article

Rescuing Canavan disease: engineering the wrong cell at the right time.

Published in:

2017

By:

Baslow, Morris

Publication type:

Letter

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 695, doi. 10.1007/s10545-017-0039-1

By:

Peeks, Fabian;
Steunenberg, Thomas;
Boer, Foekje;
Rubio-Gozalbo, M.;
Williams, Monique;
Burghard, Rob;
Rajas, Fabienne;
Oosterveer, Maaike;
Weinstein, David;
Derks, Terry

Publication type:

Article

Cataract and early nystagmus due to galactokinase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 749, doi. 10.1007/s10545-017-0040-8

By:

Bzduch, Vladimir;
Tomcikova, Dana;
Gerinec, Anton;
Behulova, Darina

Publication type:

Article

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 685, doi. 10.1007/s10545-017-0042-6

By:

Ogawa, Erika;
Shimura, Masaru;
Fushimi, Takuya;
Tajika, Makiko;
Ichimoto, Keiko;
Matsunaga, Ayako;
Tsuruoka, Tomoko;
Ishige, Mika;
Fuchigami, Tatsuo;
Yamazaki, Taro;
Mori, Masato;
Kohda, Masakazu;
Kishita, Yoshihito;
Okazaki, Yasushi;
Takahashi, Shori;
Ohtake, Akira;
Murayama, Kei

Publication type:

Article

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 715, doi. 10.1007/s10545-017-0044-4

By:

Lau, Adeline;
King, Barbara;
Thorsen, Carly;
Hassiotis, Sofia;
Beard, Helen;
Trim, Paul;
Whyte, Lauren;
Tamang, Sarah;
Duplock, Stephen;
Snel, Marten;
Hopwood, John;
Hemsley, Kim

Publication type:

Article

Risk factors for poor bone health in primary mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 673, doi. 10.1007/s10545-017-0046-2

By:

Gandhi, Shifa;
Muraresku, Colleen;
McCormick, Elizabeth;
Falk, Marni;
McCormack, Shana

Publication type:

Article

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 641, doi. 10.1007/s10545-017-0047-1

By:

Nochi, Zahra;
Olsen, Rikke;
Gregersen, Niels

Publication type:

Article

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 631, doi. 10.1007/s10545-017-0048-0

By:

Saffari, Afshin;
Kölker, Stefan;
Hoffmann, Georg;
Ebrahimi-Fakhari, Darius

Publication type:

Article

Developmental window of sensorineural deafness in biotinidase-deficient mice.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 733, doi. 10.1007/s10545-017-0049-z

By:

Maheras, Kathleen;
Pindolia, Kirit;
Wolf, Barry;
Gow, Alexander

Publication type:

Article

Hearing loss in children with Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 725, doi. 10.1007/s10545-017-0051-5

By:

Suntjens, E.;
Dreschler, W.;
Hess-Erga, J.;
Skrunes, R.;
Wijburg, F.;
Linthorst, G.;
Tøndel, C.;
Biegstraaten, M.

Publication type:

Article

Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 703, doi. 10.1007/s10545-017-0054-2

By:

Okechuku, Gyongyi;
Shoemaker, Lawrence;
Dambska, Monika;
Brown, Laurie;
Mathew, Justin;
Weinstein, David

Publication type:

Article

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

Published in:

2017

By:

Diego, Víctor;
Martínez-Monseny, Antonio;
Muchart, Jordi;
Cuadras, Daniel;
Montero, Raquel;
Artuch, Rafael;
Pérez-Cerdá, Celia;
Pérez, Belén;
Pérez-Dueñas, Belén;
Poretti, Andrea;
Serrano, Mercedes

Publication type:

Erratum

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 657, doi. 10.1007/s10545-017-0066-y

By:

Marques-da-Silva, D.;
Francisco, R.;
Webster, D.;
Reis Ferreira, V.;
Jaeken, J.;
Pulinilkunnil, T.

Publication type:

Article

PMM2-CDG and sensorineural hearing loss.

Published in:

2017

By:

Kasapkara, Çiğdem;
Barış, Zeren;
Kılıç, Mustafa;
Yüksel, Deniz;
Keldermans, Lies;
Matthijs, Gert;
Jaeken, Jaak

Publication type:

Letter

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 709, doi. 10.1007/s10545-017-0028-4

By:

Diego, Víctor;
Martínez-Monseny, Antonio;
Muchart, Jordi;
Cuadras, Daniel;
Montero, Raquel;
Artuch, Rafael;
Pérez-Cerdá, Celia;
Pérez, Belén;
Pérez-Dueñas, Belén;
Poretti, Andrea;
Serrano, Mercedes

Publication type:

Article