Results 261 to 270 of about 38,522 (353)

Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia. [PDF]

Int J Neonatal Screen
Alshehri AS, Peer-Zada AA, Algadhi AA, Aldehaimi A, Saleh MA, Mushiba AM, Faqeih EA, AlAsmari AM.   +7 more
europepmc   +1 more source

Clinical evaluation of determinations of free and serum protein bound triiodthyronine (dextran gel filtration) [PDF]

, 1965
Heinze, H. G., Landgraf, R., Schwarz, K., Scriba, Peter Christian   +3 more
core  

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

, 2004
Jeannette Gootjes, Frank Schmohl, Petra A.W. Mooijer, Conny Dekker, Hanna Mandel, Meral Topçu, Martina Huemer, Marco Schütz, Thorsten Marquardt, Jan Smeitink, Hans R. Waterham, Ronald J. A. Wanders   +11 more
openalex   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis. [PDF]

Kidney Med
Raina R, Doshi K, Sethi S, Pember B, Kumar R, Alhasan KA, Boshkos MC, Tibrewal A, Bedoyan JK.   +8 more
europepmc   +1 more source

Method Comparison and Investigation of Interference Variables of a Hand‐Held Hemoglobinometer(HemoCue Hb 201+) in Cats

Veterinary Clinical Pathology, EarlyView.
ABSTRACT Background Regular blood sampling to monitor RBC mass in anemic cats can exacerbate anemia. Laboratory‐based reporting can delay clinical decisions. A hand‐held hemoglobinometer, HemoCue Hb 201+ (HC‐201), requires only one drop of blood (10 μL) and provides results within 1 min.
Yuqing Sun, Xiu Ting Yiew, Janet Beeler‐Marfisi, Carolyn L. Kerr, Gabrielle Monteith, Shane Bateman   +5 more
wiley   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China. [PDF]

Front Genet
Xiao G, Feng Z, Xu C, Huang X, Chen M, Zhao M, Li Y, Gao Y, Wu S, Shen Y, Peng Y.   +10 more
europepmc   +1 more source

Liver Transplantation for Inborn Errors of Metabolism

, 2005
Jochen Meyburg, Georg F. Hoffmann
openalex   +1 more source

Keratoconjunctivitis sicca in intact Aksaray Malakli breed dogs: Evaluation of 50 cases

Veterinary Ophthalmology, EarlyView.
Abstract Objectives Keratoconjunctivitis sicca (KCS) is characterized by decreased aqueous tear film components, leading to ocular surface damage. Diagnosis involves clinical examination, Schirmer Tear Test (STT1), and Tear Film Break‐Up Time (TFBUT) measurement.
Nihan Avci, Fehmiye Gumus, Basak Boztok Ozgermen, Dogukan Ozen   +3 more
wiley   +1 more source