Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals (Q41248663)

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English	Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals	scientific article

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scholarly article

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28 September 2017

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals (English)

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28 September 2017

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Katja B Prestø Elgstøen

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Katja B P Elgstoen

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28 September 2017

George J G Ruijter

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George Ruijter

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28 September 2017

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Lars Mørkrid

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28 September 2017

Alexander D Rowe

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28 September 2017

Jess H Olesen

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28 September 2017

Patricia L Hall

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28 September 2017

Silvia Tortorelli

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28 September 2017

Andreas Schulze

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28 September 2017

Lianna Kyriakopoulou

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28 September 2017

Mirjam M C Wamelink

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Jiddeke M van de Kamp

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28 September 2017

Gajja S Salomons

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Piero Rinaldo

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28 September 2017

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publication date

10 March 2015

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Clinical Chemistry

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61

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28 September 2017

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28 September 2017

760-768

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28 September 2017

Partitioning of nongaussian-distributed biochemical reference data into subgroups

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

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Clinical test of renal guanidinoacetic acid metabolism by oral citrulline and creatine loading

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Analytical goals for the acceptance of common reference intervals for laboratories throughout a geographical area.

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Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

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Creatine and guanidinoacetate reference values in a French population

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The IFCC recommendation on estimation of reference intervals. The RefVal program

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Using the LMS method to measure skewness in the NCHS and Dutch National height standards

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Reabsorption of creatine and guanidoacetic acid by the renal tubules

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Methods for the diagnosis of creatine deficiency syndromes: A comparative study

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Recommended Nordic paediatric reference intervals for 21 common biochemical properties.

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Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry.

1 reference

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31 August 2024

SLC22A2 is associated with tubular creatinine secretion and bias of estimated GFR in renal transplantation.

1 reference

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Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

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Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

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Creatine synthesis: production of guanidinoacetate by the rat and human kidney in vivo

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Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children

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Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

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31 August 2024

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10.1373/CLINCHEM.2014.235564

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Europe PubMed Central

PubMed publication ID

28 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 September 2017

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