Results 111 to 120 of about 3,221 (198)

Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression [PDF]

, 2017
How to Cite This Article: Karimzadeh P, Taghdiri MM, Abasi E, Hassanvand Amouzadeh M, Naghavi Zh, Ghazavi A, Nasehi MM, Alipour A. Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression. Iran J Child Neurol. Summer 2017;
ABASI, Ezatollah, ALIPOUR, Abbas, GHAZAVI, Ahad, HASSANVAND AMOUZADEH, Masoud, KARIMZADEH, Parvaneh, NAGHAVI, Zhila, NASEHI, Mohammad Mahdi, TAGHDIRI, Mohammad Mahdi   +7 more
core   +2 more sources

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source

Parental views on informed consent for expanded newborn screening [PDF]

, 2013
Background  An increasing array of rare inherited conditions can be detected as part of the universal newborn screening programme. The introduction and evaluation of these service developments require consideration of the ethical issues involved and ...
Arnold, Autti-Ramo, Bailey, Bijarnia, Braun, Chadwick, Chrastina, Cooke, Davey, Davis, den Boer, Detmar, Detmar, El-Wakeel, Hargreaves, Helgesson, Helgesson, Junghans, Kemper, Levy, Liebl, O’Neill, Pollitt, Ponder, Rogers, Stewart, Tarini, Vockley, Wilson, Østerlie   +29 more
core   +1 more source

Establishment of Reference Ranges and Profile of Urinary Organic Acids in Different Pediatric Age Groups of the Iranian Healthy Population

مجله دانشکده پزشکی اصفهان, 2014
Background: Organic acidurias are a heterogenous group of inherited metabolic disorders characterized by the accumulation and urinary excretion of organic acids.
Azam Dadkhah, Mahin Hashemipour, Afshin Fassihi, Bahara Barati, Morteza Pourfarzam   +4 more
doaj  

Expanded newborn screening in Texas : a cost-effectiveness analysis using Markov modeling [PDF]

, 2009
textTexas House Bill 790 resulted in the expansion of the newborn screening panel from 7 to 27 disorders. The long-term economic implications of this expansion have not been studied.
Tiwana, Simrandeep Kaur
core  

Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening

Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening
Background: Glutaryl carnitine (C5DC) in dried blood spots is used as a biomarker for glutaric aciduria type 1 (GA-1) screening. C5DC, however, is the only screening marker for this condition, and various pathological conditions may interfere with C5DC metabolism.
openaire   +1 more source

A Retrospective Chart Review Examining the Clinical Utility of Family Health History [PDF]

, 2017
Family health history (FHH) is a simple and cost-effective clinical tool widely used by genetic professionals. Although the value of FHH for assessing personal and familial health and reproductive risk within a prenatal population has been demonstrated ...
Dao, Katherine, Russo, Julia
core   +1 more source

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source

Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]

Cureus
Srivastava P, Biswal SS, Kumar R, Swaroop S, Tanti SK.   +4 more
europepmc   +1 more source

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis. [PDF]

Int J Neonatal Screen
Huang S, Yao Q, Kong F, Wu M, Qiu X, Zhao P, Zeng Y, Luo J, Xu L, Zhou J.   +9 more
europepmc   +1 more source