Richner-Hanhart syndrome detected by expanded newborn screening

Pediatric Dermatology

Volumn 25, Issue 3, 2008, Pages 378-380

  Meissner, Thomas ^a   Betz, Regina Christine ^b   Pasternack, Sandra M ^b   Eigelshoven, Sibylle ^a   Ruzicka, Thomas ^c   Kruse, Roland ^a   Laitenberger, Gitta ^a   Mayatepek, Ertan ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; TYROSINE; TYROSINE AMINOTRANSFERASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIET RESTRICTION; DIET THERAPY; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; RICHNER HANHART SYNDROME; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

CHILD; EYE DISEASES; FEMALE; HUMANS; INFANT, NEWBORN; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; NEONATAL SCREENING; POLYMERASE CHAIN REACTION; SKIN; TANDEM MASS SPECTROMETRY; TYROSINE; TYROSINE TRANSAMINASE; TYROSINEMIAS;

EID: 44949123595     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2008.00687.x     Document Type: Article

References (15)

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