Works matching IS 21928312 AND DT 2019 AND VI 50 AND IP 1

Results: 8

Large neutral amino acid status in association with P:T ratio and diet in adult and pediatric patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 50, doi. 10.1002/jmd2.12076

By:

Douglas, Teresa D.;
Nucci, Anita M.;
Berry, Ann M.;
Henes, Sarah T.;
Singh, Rani H.

Publication type:

Article

Intellectual functioning in alpha‐mannosidosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 44, doi. 10.1002/jmd2.12073

By:

Cathey, Sara S.;
Sarasua, Sara M.;
Simensen, Richard;
Pietris, Katie;
Kimbrell, Gordon;
Sillence, David;
Wilson, Callum;
Horowitz, Lucia

Publication type:

Article

The need for biochemical testing in beta‐enolase deficiency in the genomic era.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 40, doi. 10.1002/jmd2.12070

By:

Wigley, Ralph;
Scalco, Renata S.;
Gardiner, Alice R.;
Godfrey, Richard;
Booth, Suzanne;
Kirk, Richard;
Hilton‐Jones, David;
Houlden, Henry;
Heales, Simon;
Quinlivan, Ros

Publication type:

Article

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 1, doi. 10.1002/jmd2.12063

By:

Jensen, Kristian Vestergaard;
Frid, Maria;
Stödberg, Tommy;
Barbaro, Michela;
Wedell, Anna;
Christensen, Mette;
Bak, Mads;
Ek, Jakob;
Madsen, Camilla Gøbel;
Darin, Niklas;
Grønborg, Sabine

Publication type:

Article

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 31, doi. 10.1002/jmd2.12060

By:

Tol, Walinka;
Ashikov, Angel;
Korsch, Eckhard;
Abu Bakar, Nurulamin;
Willemsen, Michèl A.;
Thiel, Christian;
Lefeber, Dirk J.

Publication type:

Article

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 20, doi. 10.1002/jmd2.12057

By:

Jilani, Abdulhakim;
Matviychuk, Diana;
Blaser, Susan;
Dyack, Sarah;
Mathieu, Jean;
Prasad, Asuri N.;
Prasad, Chitra;
Kyriakopoulou, Lianna;
Mercimek‐Andrews, Saadet

Publication type:

Article

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 9, doi. 10.1002/jmd2.12052

By:

Naik, Hetanshi;
Overbey, Jessica R.;
Desnick, Robert J.;
Anderson, Karl E.;
Bissell, D. Montgomery;
Bloomer, Joseph;
Bonkovsky, Herbert L.;
Phillips, John D.;
Wang, Bruce;
Singal, Ashwani;
Balwani, Manisha

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. N.PAG, doi. 10.1002/jmd2.12004
Publication type:: Article