New Insights Into Monogenic Causes of Osteoporosis

Por Riikka E. Mäkitie, Riikka E. Mäkitie, Alice Costantini, Anders Kämpe, Jessica J. Alm, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie
Publicado em 2019-02-01

Gonadal Failure Is Common in Long-Term Survivors of Childhood High-Risk Neuroblastoma Treated With High-Dose Chemotherapy and Autologous Stem Cell Rescue

Por Pauliina Utriainen, Pauliina Utriainen, Pauliina Utriainen, Anu Suominen, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Kirsi Jahnukainen, Kirsi Jahnukainen
Publicado em 2019-08-01

Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations

Por Saila Laakso, Saila Laakso, Saila Laakso, Joonatan Borchers, Joonatan Borchers, Joonatan Borchers, Sanna Toiviainen-Salo, Sanna Toiviainen-Salo, Sanna Toiviainen-Salo, Minna Pekkinen, Minna Pekkinen, Minna Pekkinen, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie
Publicado em 2020-03-01

Metabolic milieu associates with impaired skeletal characteristics in obesity.

Por Heli T Viljakainen, Heikki A Koistinen, Taina Tervahartiala, Timo Sorsa, Sture Andersson, Outi Mäkitie
Publicado em 2017-01-01

Vitamin D deficiency in children with a chronic illness-seasonal and age-related variations in serum 25-hydroxy Vitamin D concentrations.

Por Elisa Holmlund-Suila, Panu Koskivirta, Tuula Metso, Sture Andersson, Outi Mäkitie, Heli T Viljakainen
Publicado em 2013-01-01

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

Por Mehran Kausar, Mehran Kausar, Mehran Kausar, Elaine Guo Yan Chew, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Jia Nee Foo, Outi Makitie, Outi Makitie, Saima Siddiqi
Publicado em 2019-03-01

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

Por Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
Publicado em 2018-11-01

FGF23 and its role in X-linked hypophosphatemia-related morbidity

Por Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala, Outi Mäkitie
Publicado em 2019-02-01

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

Por Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala, Zulf Mughal
Publicado em 2020-06-01