(Q46521062)

22 December 2017

title

Richner-Hanhart syndrome detected by expanded newborn screening (English)

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22 December 2017

author name string

Thomas Meissner

1

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22 December 2017

Regina Christine Betz

2

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22 December 2017

Sandra M Pasternack

3

1 reference

22 December 2017

Sibylle Eigelshoven

4

1 reference

22 December 2017

Thomas Ruzicka

5

1 reference

22 December 2017

Roland Kruse

6

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22 December 2017

Gitta Laitenberger

7

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22 December 2017

Ertan Mayatepek

8

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22 December 2017

publication date

1 May 2008

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22 December 2017

published in

Pediatric Dermatology

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22 December 2017

volume

25

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22 December 2017

issue

3

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22 December 2017

page(s)

378-380

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22 December 2017

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

Richner-Hanhart syndrome (tyrosinemia II): early diagnosis of an incomplete presentation with unusual findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

Richner-Hanhart's Syndrome: Ultrastructural Abnormalities of Epidermal Keratinization Indicating a Causal Relationship to High Intracellular Tyrosine Levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

Tyrosinemia type II: nine cases of ocular signs and symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1525-1470.2008.00687.X

10.1111/J.1525-1470.2008.00687.X

21 January 2018

Identifiers

DOI

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22 December 2017

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22 December 2017