Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Gabriel Ángel Martos-Moreno"'
Autor:
Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M. Dahir
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility,
Externí odkaz:
https://doaj.org/article/37968c05241044a7ae66037fae804ebb
Autor:
Wolfgang Högler, Agnès Linglart, Anna Petryk, Priya S Kishnani, Lothar Seefried, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Kathryn Dahir, Gabriel Ángel Martos-Moreno
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-12 (2023)
Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manif
Externí odkaz:
https://doaj.org/article/80b62c288c1647f39bc8c401348a6d16
Autor:
Kathryn M. Dahir, Lothar Seefried, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang, Cheryl Rockman-Greenberg
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replacement therapy (asfotas
Externí odkaz:
https://doaj.org/article/3b71631dff824edd8fcf1b9f203f0927
Autor:
Kathryn M. Dahir, Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Cheryl Rockman-Greenberg, Samantha E. Martel, Keiichi Ozono, Wolfgang Högler, Lothar Seefried
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionHypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HP
Externí odkaz:
https://doaj.org/article/5e063fc646ab473a8ee30714e836a6df
Publikováno v:
Anales de Pediatría, Vol 90, Iss 6, Pp 362-369 (2019)
Resumen: Introducción: Los recién nacidos pequeños para su edad gestacional (PEG) presentan mayor riesgo de sufrir diversas enfermedades, tales como talla baja, obesidad infantil y sus comorbilidades metabólicas. Pacientes y métodos: Estudio de
Externí odkaz:
https://doaj.org/article/33f708e51be94702afcf3344b06e7e2d
Publikováno v:
Anales de Pediatría (English Edition), Vol 90, Iss 6, Pp 362-369 (2019)
Introduction: Small for gestational age (SGA) newborns show an increased risk of several diseases such as short stature, childhood obesity, Eliminar la comand metabolic comorbidities. Patients and methods: The study included 883 patients with obesity
Externí odkaz:
https://doaj.org/article/1c8553a978194a1b808560603f66cc51
Publikováno v:
Anales de Pediatría, Vol 90, Iss 4, Pp 224-231 (2019)
Resumen: Introducción: La influencia de la obesidad parental sobre la de los hijos y sus comorbilidades, aunque asumida, está insuficientemente caracterizada. Pacientes y métodos: Estudio retrospectivo de 800 pacientes obesos (45,2% niñas; edad:
Externí odkaz:
https://doaj.org/article/9ebe9ec0c7384603b4fd5e551d251914
Publikováno v:
Anales de Pediatría (English Edition), Vol 90, Iss 4, Pp 224-231 (2019)
Introduction: The influence of parental obesity on their obese offsprings is acknowledged but insufficiently characterised. Patients and methods: Retrospective study of 800 obese patients (45.2% girls; age: 10.35 ± 3.40 years, body mass index [BMI]:
Externí odkaz:
https://doaj.org/article/766fb0a65bb84da0bdee26bc89c37015
Autor:
Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov, Gabriel Ángel Martos-Moreno
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by bone mineralization defects and systemic complications. Understanding of the clinical co
Externí odkaz:
https://doaj.org/article/38ed8f016f2d457597f90ee51492ec7a
Publikováno v:
Anales de Pediatría, Vol 91, Iss 6, Pp 424- (2019)
Externí odkaz:
https://doaj.org/article/d36d84dd34f246e393e45ef2c3c83878