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内部出版物
Springer电子图书(1)
CNKI学位论文(21)
知网期刊论文(91)
在“
SpringerLink电子期刊
”中,
命中:
37
条,耗时:小于0.01 秒
在所有数据库中总计命中:
113
条
1.
Possible mechanisms for sensorineural hearing loss and deafness in patients with
propionic
acidemia
作者:
S. C. Grünert
;
I. Bodi
;
K. E. Odening
关键词:
Propionic
acidemia
;
Propionic
aciduria
;
Hearing loss
;
Long QT syndrome
;
Sensorineural deafness
;
KvLQT1
;
KCNE1
;
Voltage
;
gated potassium channel
;
Inner ear
刊名:Orphanet Journal of Rare Diseases
出版年:2017
2.
Proposed guidelines for the diagnosis and management of methylmalonic and
propionic
acidemia
作者:
Matthias R Baumgartner
;
Friederike H?rster…
关键词:
Methylmalonic
acidemia
;
Methylmalonic aciduria
;
Propionic
acidemia
;
Propionic
aciduria
;
Methylmalonyl
;
CoA mutase
;
Propionyl
;
CoA carboxylase
;
Vitamin B12/adenosylcobalamin
;
Biotin
;
Hyperammonemia
;
Metabolic decompensation
;
Metabolic stroke (
;
like event)
;
Movement disorder
;
Seizures
;
Intellectual disability
刊名:Orphanet Journal of Rare Diseases
出版年:2014
3.
Urolithiasis in an infant with
propionic
acidemia
: Answer
作者:
Aysun ?altik Yilmaz (1)
Mustafa Kili? (2)
Bahar Büyükkarag?z (1)
Asl? ?elebi Tayfur (1)
Mesut Ko?ak (3)
关键词:
Infant
;
Urolithiasis
;
Propionic
acidemia
;
Ammonium acid urate
刊名:Pediatric Nephrology
出版年:2015
4.
Urolithiasis in an infant with
propionic
acidemia
: Questions
作者:
Aysun ?altik Yilmaz (1) (4)
Mustafa Kili? (2)
Bahar Büyükkarag?z (1)
Asl? ?elebi Tayfur (1)
Mesut Ko?ak (3)
关键词:
Infant
;
Urolithiasis
;
Propionic
acidemia
刊名:Pediatric Nephrology
出版年:2015
5.
Two Frequent Mutations Associated with the Classic Form of
Propionic
Acidemia
in Taiwan
作者:
Yen-Hui Chiu
;
Yu-Ning Liu
;
Wei-Ling Liao
;
Ying-Chen Chang…
关键词:
Propionic
acidemia
;
Propionyl
;
CoA carboxylase
;
Mutation spectrum
;
Large deletion
;
Taiwan
刊名:Biochemical Genetics
出版年:2014
6.
Neue Zielerkrankungen im Neugeborenenscreening
作者:
PD Dr. W. R?schinger
;
S. Sonnenschein
;
E. Schuhmann…
关键词:
Tandem
;
Massenspektrometrie
;
Hypertyrosin?mie Typ I
;
Propionacid?mie
;
Methylmalonacidurie
;
Blutprobenentnahme
;
Tandem mass spectrometry
;
Tyrosinemia type I
;
Propionic
acidemia
;
Methylmalonic aciduria
;
Blood specimen collection
刊名:Monatsschrift Kinderheilkunde
出版年:2015
7.
Propionic
acidemia
in a previously healthy adolescent with acute onset of dilated cardiomyopathy
作者:
Alexander Laemmle (1) (5)
Christian Balmer (2) (5)
Carsten Doell (3)
J?rn Oliver Sass (4) (5)
Johannes H?berle (1) (5)
Matthias R. Baumgartner (1) (5)
关键词:
Propionic
acidemia
;
Dilated cardiomyopathy
;
Propionyl
;
CoA carboxylase
;
Organic aciduria
刊名:European Journal of Pediatrics
出版年:2014
8.
Clinical characteristics and mutation analysis of
propionic
acidemia
in Thailand
作者:
Nithiwat Vatanavicharn (1) (4)
Somporn Liammongkolkul (1)
Osamu Sakamoto (2)
Mahattana Kamolsilp (3)
Achara Sathienkijkanchai (1)
Pornswan Wasant (1)
关键词:
mutations
;
propionic
acidemia
;
Thailand
刊名:World Journal of Pediatrics
出版年:2014
9.
Propionic
acidemia
: clinical course and outcome in 55 pediatric and adolescent patients
作者:
Sarah C Grünert (1)
Stephanie Müllerleile (2)
Linda De Silva (2)
Michael Barth (1)
Melanie Walter (2)
Kerstin Walter (1)
Thomas Meissner (5)
Martin Lindner (6)
Regina Ensenauer (7)
René Santer (8)
Olaf A Bodamer (10) (9)
Matthias R Baumgartner (11)
Michaela Brunner-Krainz (12)
Daniela Karall (13)
Claudia Haase (14) (15)
Ina Knerr (16)
Thorsten Marquardt (17)
Julia B Hennermann (18)
Robert Steinfeld (19)
Skadi Beblo (20)
Hans-Georg Koch (21)
Vassiliki Konstantopoulou (9)
Sabine Scholl-Bürgi (13)
Agnes van Teeffelen-Heithoff (17)
Terttu Suormala (22)
Wolfgang Sperl (23)
Jan P Kraus (24)
Andrea Superti-Furga (1) (4)
Karl Otfried Schwab (1)
J?rn Oliver Sass (2) (3)
关键词:
Propionic
acidemia
;
Branched
;
chain amino acids
;
Outcome
;
Quality of life
;
Clinical course
;
Physical development
;
Neurocognitive development
;
IQ
;
Long
;
term complications
;
Propionyl
;
coenzyme A carboxylase deficiency
刊名:Orphanet Journal of Rare Diseases
出版年:2013
10.
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with
propionic
acidemia
作者:
Tamaris Zwickler (1)
Alina Riderer (1)
Gisela Haege (1)
Georg F. Hoffmann (1)
Stefan K?lker (1)
Peter Burgard (1)
刊名:Journal of Inherited Metabolic Disease
出版年:2014
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