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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 3003, doi. 10.1093/brain/awad010
By:
- Tangeraas, Trine;
- Constante, Juliana R;
- Backe, Paul Hoff;
- Oyarzábal, Alfonso;
- Neugebauer, Julia;
- Weinhold, Natalie;
- Boemer, Francois;
- Debray, François G;
- Ozturk-Hism, Burcu;
- Evren, Gumus;
- Tuba, Eminoglu F;
- Ummuhan, Oncul;
- Footitt, Emma;
- Davison, James;
- Martinez, Caroline;
- Bueno, Clarissa;
- Machado, Irene;
- Rodríguez-Pombo, Pilar;
- Al-Sannaa, Nouriya;
- Santos, Mariela De Los
Publication type:
Article
Quality of life in children treated with restrictive diet for inherited metabolic disease.
Published in:
Pediatrics International, 2013, v. 55, n. 4, p. 428, doi. 10.1111/ped.12089
By:
- Eminoglu, Tuba F.;
- Soysal, Sebnem A.;
- Tumer, Leyla;
- Okur, Ilyas;
- Hasanoglu, Alev
Publication type:
Article
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Published in:
Journal of Human Genetics, 2014, v. 59, n. 4, p. 229, doi. 10.1038/jhg.2013.143
By:
- Nakajima, Junya;
- Eminoglu, Tuba F;
- Vatansever, Goksel;
- Nakashima, Mitsuko;
- Tsurusaki, Yoshinori;
- Saitsu, Hirotomo;
- Kawashima, Hisashi;
- Matsumoto, Naomichi;
- Miyake, Noriko
Publication type:
Article
A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency.
Published in:
Turkish Journal of Gastroenterology, 2018, v. 29, n. 4, p. 518, doi. 10.5152/tjg.2018.17492
By:
- Haznedar, Pınar;
- Kuloğlu, Zarife;
- Kansu, Aydan;
- Eminoğlu, F. Tuba
Publication type:
Article
3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 4, p. 478, doi. 10.1177/0883073808324536
By:
- Eminoglu, F. Tuba;
- Ozcelik, Aysima A.;
- Okur, Ilyas;
- Tumer, Leyla;
- Biberoglu, Gursel;
- Demir, Ercan;
- Hasanoglu, Alev;
- Baumgartner, Matthias R.
Publication type:
Article

Found: 5

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

Quality of life in children treated with restrictive diet for inherited metabolic disease.

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency.

3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family.