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275 articles with title/keywords/abstract containing inborn errors of metabolism

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Liver cell transplantation in children

Authors: Meyburg, Jochen; Schmidt, Jan; Hoffmann, Georg F.

Source: Clinical Transplantation, Volume 23, Supplement 21, December 2009 , pp. 75-82(8)

Publisher: Blackwell Publishing

Free Content Liver Cell Transplantation: Basic Investigations for Safe Application in Infants and Small Children

Authors: Meyburg, Jochen; Alexandrova, Krassimira; Barthold, Marc; Kafert-Kasting, Sabine; Schneider, Andrea S.; Attaran, Masoumeh; Hoerster, Friederike; Schmidt, Jan; Hoffmann, Georg F.; Ott, Michael

Source: Cell Transplantation, Volume 18, Number 7, 2009 , pp. 777-786(10)

Publisher: Cognizant Communication Corporation

Pediatric Endocrinology and Inborn Errors of Metabolism

Source: Journal of Paediatrics and Child Health, Volume 45, Number 11, November 2009 , pp. 668-669(2)

Publisher: Blackwell Publishing

Metabolomics: Unraveling the chemical individuality of common human diseases

Author: Houten, Sander

Source: Annals of Medicine, Volume 41, Number 6, 2009 , pp. 402-407(6)

Publisher: Informa Healthcare

Pediatric Endocrinology and Inborn Errors of Metabolism

Source: Journal of Paediatrics and Child Health, Volume 45, Numbers 7-8, July/August 2009 , pp. 478-478(1)

Publisher: Blackwell Publishing

Diagnostic determination system for high-risk screening for inborn errors of bile acid metabolism based on an analysis of urinary bile acids using gas chromatography-mass spectrometry: Results for 10 years in Japan

Authors: Nittono, Hiroshi; Takei, Hajime; Unno, Atsushi; Kimura, Akihiko; Shimizu, Toshiaki; Kurosawa, Takao; Tohma, Sadahiko; Une, Mizuho

Source: Pediatrics International, Volume 51, Number 4, August 2009 , pp. 535-543(9)

Publisher: Blackwell Publishing

Stroke in children: inherited and acquired factors and age-related variations in the presentation of 48 paediatric patients

Authors: Del Balzo, Francesca; Spalice, Alberto; Ruggieri, Martino; Greco, Filippo; Properzi, Enrico; Iannetti, Paola

Source: Acta Pædiatrica, Volume 98, Number 7, July 2009 , pp. 1130-1136(7)

Publisher: Blackwell Publishing

Newborn screening for inborn errors of metabolism and endocrinopathies: an update

Authors: Fingerhut, Ralph; Olgemöller, Bernhard

Source: Analytical and Bioanalytical Chemistry, Volume 393, Number 5, March 2009 , pp. 1481-1497(17)

Publisher: Springer

Enzyme replacement therapy for Gaucher disease

Author: Charrow, Joel

Source: Expert Opinion on Biological Therapy, Volume 9, Number 1, January 2009 , pp. 121-131(11)

Publisher: Informa Healthcare

Mitochondrial medicine: entering the era of treatment

Authors: Koene, S.; Smeitink, J.

Source: Journal of Internal Medicine, Volume 265, Number 2, February 2009 , pp. 193-209(17)

Publisher: Blackwell Publishing

Acute presentations of inherited metabolic disease in adulthood

Authors: Lee, Philip J.; Lachmann, Robin H.

Source: Clinical Medicine, Journal of the Royal College of Physicians, Volume 8, Number 6, December 2008 , pp. 621-624(4)

Publisher: Royal College of Physicians

Metabolomics-based methods for early disease diagnostics

Authors: Gowda, GA Nagana; Zhang, Shucha; Gu, Haiwei; Asiago, Vincent; Shanaiah, Narasimhamurthy; Raftery, Daniel

Source: Expert Review of Molecular Diagnostics, Volume 8, Number 5, September 2008 , pp. 617-633(17)

Publisher: Expert Reviews

Progress toward cell-directed therapy for phenylketonuria

Author: Harding

Source: Clinical Genetics, Volume 74, Number 2, August 2008 , pp. 97-104(8)

Publisher: Blackwell Publishing

Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily

Authors: Marchitti, Satori A; Brocker, Chad; Stagos, Dimitrios; Vasiliou, Vasilis

Source: Expert Opinion on Drug Metabolism and Toxicology, Volume 4, Number 6, June 2008 , pp. 697-720(24)

Publisher: Informa Healthcare

Free Content The centenary of Garrod's Croonian lectures

Author: Weatherall, David J.

Source: Clinical Medicine, Journal of the Royal College of Physicians, Volume 8, Number 3, June 2008 , pp. 309-311(3)

Publisher: Royal College of Physicians

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)

Authors: Kroepfl; Petek; Schwarzbraun; Kroisel; Plecko

Source: Clinical Genetics, Volume 73, Number 5, May 2008 , pp. 492-495(4)

Publisher: Blackwell Publishing

Age of SERPINA1 Gene PI Z Mutation: Swedish and Latvian Population Analysis

Authors: Lace, B.; Sveger, T.; Krams, A.; Cernevska, G.; Krumina, A.

Source: Annals of Human Genetics, Volume 72, Number 3, May 2008 , pp. 300-304(5)

Publisher: Blackwell Publishing

A severe neurological sequela in acute intermittent porphryria: presentation of a case from encephalopathy to quadriparesis

Authors: GÜRSES, C; DURUKAN, A; SENCER, S; AKÇA, Ş; BAYKAN, B; GÖKYIĞIT, A

Source: British Journal of Radiology, Volume 81, Number 965, May 2008 , pp. e135-e140(1)

Publisher: British Institute of Radiology

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