Search Results - "Inborn error of metabolism"

Suggested Topics within your search.
Refine Results
  1. 101
    Cover Image

    Effect of Chorioamnionitis on Neonatal Outcome: A Hospital-Based Study by Atika Sher, Syed Kashif Abbas, Shiyam Sunder Tikmani, Falak Abro, Muhammad Jameel Ashraf

    Published 2019
    Connect to this object online.
    Book

    Save to List
    Saved in:
  2. 102
    Cover Image

    Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation by Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins, Chong Ae Kim

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  3. 103
    Cover Image

    Production and characterization of murine models of classic and intermediate maple syrup urine disease by Watkins Simon, Ferguson Carolyn, Skvorak Kristen, Homanics Gregg E, Paul Harbhajan S

    Published 2006
    Connect to this object online.
    Book

    Save to List
    Saved in:
  4. 104
    Cover Image

    A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism by Azita Tavasoli, Khadije Arjmandi Rafsanjani, Saba Hemmati, Marziyeh Mojbafan, Elham Zarei, Soudabeh Hosseini

    Published 2019
    Connect to this object online.
    Book

    Save to List
    Saved in:
  5. 105
    Cover Image

    Assistência de enfermagem ao recém-nascido com acidúria argininosuccínica em terapia intensiva neonatal: relato de caso by Carolaine das Graças Marcon Gumildes, Denise Cristina Santana Luvizotto, Juliana Ollé Mendes, Débora Maria Makuch

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  6. 106
    Cover Image

    Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong by Kiran Moti Belaramani, Cheuk Wing Fung, Anne Mei Kwun Kwok, Shing Yan Robert Lee, Eric Kin Cheong Yau, Ho Ming Luk, Chloe Miu Mak, Matthew Chun Wing Yeung, Olivia Miu Yung Ngan

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  7. 107
    Cover Image

    The EBMT Handbook Hematopoietic Stem Cell Transplantation and Cellular Therapies /

    Published 2019
    Table of Contents: “…Primary immunodeficiencies -- 90. Inborn error of metabolism and osteopetrosis -- 91. Autoimmune disease -- 92. …”
    Link to Metadata
    Electronic eBook

    Save to List
    Saved in:
  8. 108
    Cover Image

    Experiencia clínica con medicamentos huérfanos para enfermedades raras metabólicas by Alicia Caso-González, Jesica Núñez-Rodríguez, María-José, Yared González-Pérez, Raquel Marín-Gorricho, Claudia Leralta-González, Carmen Obaldia-Alaña

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  9. 109
    Cover Image

    Clinical experience with orphan drugs for rare metabolic diseases by Alicia Caso-González, Jesica Núñez-Rodríguez, María-José, Yared González-Pérez, Raquel Marín-Gorricho, Claudia Leralta-González, Carmen Obaldia-Alaña

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  10. 110
    Cover Image

    Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future by G. Scaturro, C. Sanfilippo, M. Piccione, E. Piro, M. Giuffrè, G. Corsello

    Published 2013
    Connect to this object online.
    Book

    Save to List
    Saved in:
  11. 111
    Cover Image

    Necesidades sanitarias y socioeducativas de niños con enfermedades raras de tipo metabólico y sus familias: estudio cualitativo en un hospital de tercer nivel by Eva María Tejada-Ortigosa, Katherine Flores-Rojas, Laura Moreno-Quintana, María Carmen Muñoz-Villanueva, Juan Luis Pérez-Navero, Mercedes Gil-Campos

    Published 2019
    Connect to this object online.
    Book

    Save to List
    Saved in:
  12. 112
    Cover Image

    Cystic fibrosis in disguise - the wolf in sheep's clothing, a case report by Friederike Wilbert, Sarah C. Grünert, Andrea Heinzmann, Sebastian F. N. Bode

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  13. 113
    Cover Image

    Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry by Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, Bruno Maranda

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  14. 114
    Cover Image

    Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México Expand newborn screening using tandem mass spectrometry: two ye... by María del Rosario Torres-Sepúlveda, Laura E Martínez-de Villarreal, Carmen Esmer, Rogerio González-Alanís, Consuelo Ruiz-Herrera, Alejandra Sánchez-Peña, José Alberto Mendoza-Cruz, Jesús Z Villarreal-Pérez

    Published 2008
    Connect to this object online.
    Book

    Save to List
    Saved in:
  15. 115
    Cover Image

    A retrospective analysis of MS/MS screening for IEM in high-risk areas by Xiao He, Juan Kuang, Jiahong Lai, Jingxiong Huang, Yijin Wang, Guofeng Lan, Yingjun Xie, Xuekai Shi

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  16. 116
    Cover Image

    Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS by Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  17. 117
    Cover Image

    Urea cycle disorders and indications for liver transplantation by Marta García Vega, José D. Andrade, Ana Morais, Esteban Frauca, Gema Muñoz Bartolo, María D. Lledín, Ana Bergua, Loreto Hierro

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  18. 118
    Cover Image

    Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review by Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

    Published 2016
    Connect to this object online.
    Book

    Save to List
    Saved in:
  19. 119
    Cover Image

    Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion by Irene De Biase, Margarita Diaz-Ochu, Mary Rindler, Wendy L. Hobson-Rohrer

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  20. 120
    Cover Image

    Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges by Štěpán Kouřil, Julie de Sousa, Kamila Fačevicová, Alžběta Gardlo, Christoph Muehlmann, Klaus Nordhausen, David Friedecký, Tomáš Adam

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:

Search Tools: