Cover Image

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

Show other versions (2)

Objectives: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais. Methods: Descriptive study of patients with BH4 deficiency identified by the Neonatal Screening...

Full description

Saved in:

Bibliographic Details
Main Authors:	Cezar Antonio Abreu de Souza (Author), Michelle Rosa Andrade Alves (Author), Rosangelis del Lama Soares (Author), Viviane de Cássia Kanufre (Author), Valéria de Melo Rodrigues (Author), Rocksane de Carvalho Norton (Author), Ana Lúcia Pimenta Starling (Author), Marcos José Burle de Aguiar (Author)
Format:	Book
Published:	Elsevier, 2018-03-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia
by: Cezar Antonio Abreu de Souza, et al.
Published: (2018)

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia,
by: Cezar Antonio Abreu de Souza, et al.

Overweight/obesity in adolescents with phenylketonuria: protective and predisposing factors
by: Adriana Márcia Silveira, et al.
Published: (2022)

Metabolic syndrome in children and adolescents with phenylketonuria
by: Viviane C. Kanufre, et al.
Published: (2015)

Metabolic syndrome in children and adolescents with phenylketonuria
by: Viviane C. Kanufre, et al.
Published: (2015)

Metabolic syndrome in children and adolescents with phenylketonuria
by: Viviane C. Kanufre, et al.
Published: (2015)

Estado nutricional e ingestão de selênio em crianças com fenilcetonúria em Minas Gerais, Brasil
by: Michelle R. A. Alves, et al.
Published: (2012)

Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment
by: Mercedes Martínez-Pardo
Published: (2014)

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan
by: Shino Odagiri, et al.
Published: (2021)

Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?
by: Annamaria Dicintio, et al.
Published: (2022)

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia
by: Maria Cristina Risoleo, et al.
Published: (2022)

Polyunsaturated long-chain fatty acids in hyperphenylalaninemias
by: Sara Guillén-López, et al.
Published: (2014)

Controversia BH
by: Marisa Pegoraro
Published: (2014)

A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection
by: Colleen Donnelly, et al.
Published: (2024)

O aleitamento materno no tratamento de crianças com fenilcetonúria Breastfeeding in the treatment of children with phenylketonuria
by: Viviane C. Kanufre, et al.
Published: (2007)

GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report
by: Kavinda Chandimal Dayasiri, et al.
Published: (2019)

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening
by: Marcela Vela-Amieva, et al.
Published: (2023)

BH3 Mimetics for the Treatment of Prostate Cancer
by: Philipp Wolf
Published: (2017)

KESUKSESAN SISTEM INFORMASI REMUNERASI DI PTN-BH DENGAN MENGGUNAKAN MODEL DELONE DAN MCLEAN : Studi Pada PTN-BH UPI
by: Jaqolina Anggraeni Vigim, -
Published: (2019)

Hypericin, a potential new BH3 mimetic
by: Anastasia Doroshenko, et al.
Published: (2022)

Distribuição das lesões esquistossomóticas extra-hepáticas em camundongos infectados pelas linhagens BH e SJ do Schistosoma mansoni The distribution of extra-hepatic schistosomotic lesions in mice infected by BH and SJ strains of Schistosoma mansoni
by: Luiz A. Magalhães, et al.
Published: (1979)

Relação entre níveis de fenilalanina, inteligência e condição socioeconômica de pacientes com fenilcetonúria
by: Isabel Pimenta Spínola Castro, et al.
Published: (2012)

Ação de fatores enzimáticos na obtenção de hidrolisados protéicos de farinha de trigo com baixo teor de fenilalanina
by: Raquel Linhares Carreira, et al.
Published: (2009)

Benzene Derivatives from Ink Lead to False Positive Results in Neonatal Hyperphenylalaninemia Screening with Ninhydrin Fluorometric Method
by: Shuren Feng, et al.
Published: (2020)

Autopercepção De Saúde E Perfil De Idosos De Grupos De Convivência Da Regional Norte BH/MG
by: Taís de Almeida Marra, et al.
Published: (2024)

PENGEMBANGAN MULTIMEDIA VIDEO PEMBELAJARAN PEMBUATAN BOUSTE HOUDER (BH)
by: Tias, Indah Sulistiyaning
Published: (2015)

Deficiência de ferro: ainda a principal etiologia entre crianças encaminhadas por motivo de anemia para serviço especializado de hematologia Iron deficiency: still the main cause of referral of children to hematology services for reason of anemia
by: Márcio Antônio Portugal Santana, et al.
Published: (2009)

Motivação para prática de atividade física: o caso de agentes penitenciários da grande BH
by: Julio Cesar de Souza Junior, et al.
Published: (2014)

Self-rated health in urban adults, perceptions of the physical and social environment, and reported comorbidities: The BH Health Study
by: Adriana Lúcia Meireles, et al.
Published: (2015)

Viabilidade de miracídios de Schistosoma mansoni, obtidos de fezes e de granulomas hepáticos de camundongos experimentalmente infectados com a linhagem BH Viability of Schislosoma mansoni miracidia obtained from feces and liver granuloma of experimental mice infected with the BH strain
by: Eliana Maria Zanotti-Magalhães, et al.
Published: (1988)

Urban upgrading and its impact on health: a "quasi-experimental" mixed-methods study protocol for the BH-Viva Project
by: Amélia Augusta de Lima Friche, et al.
Published: (2015)

Noise annoyance, sociodemographic and health patterns, and neighborhood perceptions in a Brazilian metropolis: BH Health Study
by: Fernanda Abalen Martins Dias, et al.
Published: (2021)

GeoloGIS-BH: An Information System for Using the Built Heritage for Geological Teaching
by: C. Alves, et al.
Published: (2016)

Triagem neonatal: o que os pediatras deveriam saber Newborn screening: what pediatricians should know
by: Letícia Lima Leão, et al.
Published: (2008)

Antimetastatic Properties of Prodigiosin and the BH3-Mimetic Obatoclax (GX15-070) in Melanoma
by: Margarita Espona-Fiedler, et al.
Published: (2022)

Social context of neighborhood and socioeconomic status on leisure-time physical activity in a Brazilian urban center: The BH Health Study
by: Amanda Cristina de Souza Andrade, et al.
Published: (2015)

Effect of the BH3 Mimetic Polyphenol (-)-Gossypol (AT-101) on the in vitro and in vivo Growth of Malignant Mesothelioma
by: Monica Benvenuto, et al.
Published: (2018)

Selective Nitro Reduction of Ester Substituted Nitroarenes by NaBH4-FeCl2
by: Zi-Hong Zhou, et al.
Published: (2022)

Gestão coletiva na OI KABUM! BH - a construção de saber pelo fazer compartilhado
by: Débora Bráulio Santos
Published: (2015)

Nutritional status of urban adolescents: individual, household and neighborhood factors based on data from The BH Health Study
by: Stephanie Bispo, et al.
Published: (2015)