NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates (Q34457727)

2 August 2017

title

NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates (English)

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2 August 2017

5

Manfred Spraul

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author name string

Sitke Aygen

1

1 reference

2 August 2017

Ulrich Dürr

2

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2 August 2017

Peter Hegele

3

1 reference

2 August 2017

Johannes Kunig

4

1 reference

2 August 2017

Hartmut Schäfer

6

1 reference

2 August 2017

David Krings

7

1 reference

2 August 2017

Claire Cannet

8

1 reference

2 August 2017

Fang Fang

9

1 reference

2 August 2017

Birk Schütz

10

1 reference

2 August 2017

Selda F H Bülbül

11

1 reference

2 August 2017

H Ibrahim Aydin

12

1 reference

2 August 2017

S Umit Sarıcı

13

1 reference

2 August 2017

Mehmet Yalaz

14

1 reference

2 August 2017

Rahmi Ors

15

1 reference

2 August 2017

Resit Atalan

16

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2 August 2017

Oğuz Tuncer

17

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2 August 2017

publication date

11 July 2014

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Journal of Inherited Metabolic Disorders Reports

2 August 2017

published in

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2 August 2017

volume

16

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2 August 2017

page(s)

101-111

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Metabolic phenotyping in clinical and surgical environments

2 August 2017

cites work

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6 July 2018

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Evidence of different metabolic phenotypes in humans

6 July 2018

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Clinical approach to treatable inborn metabolic diseases: an introduction

6 July 2018

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6 July 2018

The genetic tyrosinemias

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Diagnosis and early management of inborn errors of metabolism presenting around the time of birth

6 July 2018

1 reference

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A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing

6 July 2018

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Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism.

6 July 2018

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Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria

6 July 2018

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1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism

6 July 2018

1 reference

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750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease

6 July 2018

1 reference

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High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies.

6 July 2018

1 reference

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NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

6 July 2018

1 reference

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Individual Human Phenotypes in Metabolic Space and Time

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25012580

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2014_326

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2 August 2017

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2 August 2017

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