Inborn Errors of Fructose Metabolism. What Can We Learn from Them?

by Christel Tran
Published 2017-04-01

Communication impairments in children with inborn errors of metabolism: A preliminary study

by Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
Published 2017-01-01

Glutaric acidemia type I. Report of a case and literature review

by Forero Sánchez, Edwin, Echeverri Peña, Olga Yaneth, Espinosa García, Eugenia, Guevara Morales, Johana María, Barrera Avellaneda, Luis Alejandro
Published 2015-04-01

A Rare Cause of Sudden Onset-Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia

by Vipin Kumar Singh, Rajeev Ratan Singh Yadav
Published 2016-03-01

Does the patient have a leukodystrophy? Importance of clinical description, semiotics and neuroimaging in the diagnostic suspicion of a metabolicorigin leukodystrophy

by Echeverri-Peña, Olga Yaneth, Mera, Paola, Cabarcas-Castro, Lissete, Ardila-Gómez, Yudi Andrea, Espinosa-García, Eugenia, Barrera-Avellaneda, Luis Alejandro
Published 2017-04-01

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

by J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos
Published 2017-03-01

Fructose and Mannose in Inborn Errors of Metabolism and Cancer

by Elizabeth L. Lieu, Neil Kelekar, Pratibha Bhalla, Jiyeon Kim
Published 2021-07-01

<i>Helicobacter pylori</i> Infection in Children with Phenylketonuria Does Not Depend on Metabolic Control and Is Not More Frequent Than in Healthy Subjects—A Cross-Sectional Study...

by Marek Walkowiak, Łukasz Kałużny, Renata Mozrzymas, Małgorzata Jamka, Bożena Mikołuć, Joanna Jagłowska, Ewa Starostecka, Roza Nurgaliyeva, Jarosław Walkowiak, Aleksandra Lisowska
Published 2021-08-01

Towards an Algorithm-Based Tailored Treatment of Acute Neonatal Hyperammonemia

by Sunny Eloot, Jonathan De Rudder, Patrick Verloo, Evelyn Dhont, Ann Raes, Wim Van Biesen, Evelien Snauwaert
Published 2021-07-01

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit

by Wanqiao Zhang, Wanqiao Zhang, Wanqiao Zhang, Yao Yang, Yao Yang, Yao Yang, Wei Peng, Wei Peng, Wei Peng, Juan Chang, Juan Chang, Juan Chang, Yabo Mei, Yabo Mei, Yabo Mei, Lei Yan, Lei Yan, Lei Yan, Yuhan Chen, Yuhan Chen, Yuhan Chen, Xiujuan Wei, Xiujuan Wei, Xiujuan Wei, Yabin Liu, Yabin Liu, Yabin Liu, Yan Wang, Yan Wang, Yan Wang, Zhichun Feng, Zhichun Feng, Zhichun Feng
Published 2020-01-01

Screening for aminoacidopathies using cost effective methods in symptomatic children: A cross sectional study

by Nazmin Fatima, Gyanendra Kumar Sonkar, Shalini Tripathi, Sangeeta Singh, Abbas Ali Mahdi
Published 2021-02-01

Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

by Thirsa Conijn, Lotte Haverman, Frits A. Wijburg, Carlijn De Roos
Published 2021-03-01

Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan

by Sumreena Mansoor
Published 2020-11-01

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

by Karina Colonetti, Luiz Fernando Roesch, Ida Vanessa Doederlein Schwartz

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)

by F. H. de Bitencourt, I. V. D. Schwartz, F. S. L. Vianna
Published 2019-02-01

APRESENTAÇÃO CLÍNICA INICIAL DOS CASOS DE ERROS INATOS DO METABOLISMO DE UM HOSPITAL PEDIÁTRICO DE REFERÊNCIA: AINDA UM DESAFIO DIAGNÓSTICO

by Andressa Romão, Priscila Endlich Alves Simon, José Eduardo Coutinho Góes, Louise Lapagessede Camargo Pinto, Roberto Giugliani, Gisele Rozone de Luca, Francisca Ligia Cirilo Carvalho

Inborn errors of metabolism: a clinical overview

by Ana Maria Martins
Published 1999-11-01

Neonatal Seizures Revisited

by Konrad Kaminiów, Sylwia Kozak, Justyna Paprocka
Published 2021-02-01

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center

by Sofia Barbosa-Gouveia, María E. Vázquez-Mosquera, Emiliano González-Vioque, José V. Álvarez, Roi Chans, Francisco Laranjeira, Esmeralda Martins, Ana Cristina Ferreira, Alejandro Avila-Alvarez, María L. Couce
Published 2021-08-01