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Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M. Enns et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Living-related versus deceased donor pediatric liver transplantation: A multivariate analysis of technical and immunological complications in 235 recipients
C. Bourdeaux et al.
AMERICAN JOURNAL OF TRANSPLANTATION (2007)
The aetiology of neurological complications of organic acidaemias -: A role for the blood-brain barrier
S. Koelker et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?
F. J. van Spronsen et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency
Hironori Nagasaka et al.
EUROPEAN JOURNAL OF PEDIATRICS (2006)
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
Saori Yamaguchi et al.
HUMAN MUTATION (2006)
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency
F Scaglia et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2006)
Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency
X Stéphenne et al.
GASTROENTEROLOGY (2006)
Clinical approach to treatable inborn metabolic diseases: An introduction
JM Saudubray et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Late-onset ornithine transcarbamylase deficiency in male patients: Prognostic factors and characteristics of plasma amino acid profile
E Harada et al.
PEDIATRICS INTERNATIONAL (2006)
Hepatocyte transplantation for liver-based metabolic disorders
Anil Dhawan et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Anesthetic management of patients with ornithine transcarbamylase deficiency
J Schmidt et al.
PEDIATRIC ANESTHESIA (2006)
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation
S Fecarotta et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Two cases of citrullinaemia presenting with stroke
JH Choi et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Diagnosis and early management of inborn errors of metabolism presenting around the time of birth
JV Leonard et al.
ACTA PAEDIATRICA (2006)
Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism
H. Vlaardingerbroek et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: Report of a case
N Kawagishi et al.
SURGERY TODAY (2005)
Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto University
D Morioka et al.
LIVER TRANSPLANTATION (2005)
Unmasked adult-onset urea cycle disorders in the critical care setting
ML Summar et al.
CRITICAL CARE CLINICS (2005)
Nutritional management of urea cycle disorders
RH Singh et al.
CRITICAL CARE CLINICS (2005)
Urea cycle disorders: Clinical presentation outside the newborn period
W Smith et al.
CRITICAL CARE CLINICS (2005)
Genetic counseling issues in urea cycle disorders
LS King et al.
CRITICAL CARE CLINICS (2005)
Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: Impact of the use of heterozygous donors
D Morioka et al.
TRANSPLANTATION (2005)
Cryopreserved liver cell transplantation controls ornithine transcarbamylase deficient patient while awaiting liver transplantation
X Stéphenne et al.
AMERICAN JOURNAL OF TRANSPLANTATION (2005)
Neonatal hyperammonemia:: The N-carbamoyl-L-glutamic acid test
N Guffon et al.
JOURNAL OF PEDIATRICS (2005)
Postpartum psychosis in mild argininosuccinate synthetase deficiency
GM Enns et al.
OBSTETRICS AND GYNECOLOGY (2005)
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life
R Ensenauer et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Hyperargininemia due to liver arginase deficiency
EA Crombez et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Histone deacetylase inhibitors
C Monneret
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY (2005)
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
L Caldovic et al.
HUMAN MUTATION (2005)
Urea cycle defects: Management and outcome
M Nassogne et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia
K Ihara et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Genetic approach to prenatal diagnosis in urea cycle defects
J Häberle et al.
PRENATAL DIAGNOSIS (2004)
Problems in the management of urea cycle disorders
B Wilcken
MOLECULAR GENETICS AND METABOLISM (2004)
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients
F Scaglia et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers
RB MacArthur et al.
MOLECULAR GENETICS AND METABOLISM (2004)
The role of liver transplantation in urea cycle disorders
JV Leonard et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate
L Caldovic et al.
JOURNAL OF PEDIATRICS (2004)
Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects
A Arias et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
K Gyato et al.
ANNALS OF NEUROLOGY (2004)
A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene
S Ito et al.
JOURNAL OF GASTROENTEROLOGY (2004)
Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency
KL McBride et al.
PEDIATRICS (2004)
How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?
S Grunewald et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening
C Bachmann
EUROPEAN JOURNAL OF PEDIATRICS (2003)
Hyperammonaemia as a cause of psychosis in an adolescent
A Bélanger-Quintana et al.
EUROPEAN JOURNAL OF PEDIATRICS (2003)
Liver transplantation in neonates
SS Sundaram et al.
LIVER TRANSPLANTATION (2003)
Functional outcomes of pediatric liver transplantation
EM Alonso et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2003)
Identification of 16 novel mutations in the arglininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
HZ Gao et al.
HUMAN MUTATION (2003)
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder
SP Horslen et al.
PEDIATRICS (2003)
Health-related quality of life in pediatric liver transplant recipients: A single-center study
JC Bucuvalas et al.
LIVER TRANSPLANTATION (2003)
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
J Haberle et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Clinical approach to inborn errors of metabolism presenting in the newborn period
CJ Ellaway et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2002)
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
WJ Kleijer et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2002)
Identification of phenylbutyrylglutamine, a new metabolite of phenylbutyrate metabolism in humans
B Comte et al.
JOURNAL OF MASS SPECTROMETRY (2002)
Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine plus arginine ratio in amniotic fluid
B Chadefaux-Vekemans et al.
PRENATAL DIAGNOSIS (2002)
Continuous venovenous hemodiafiltration in neonatal onset hyperammonemia
T Hiroma et al.
AMERICAN JOURNAL OF PERINATOLOGY (2002)
Neurological outcome of patients with ornithine carbamoyltransferase deficiency
P Nicolaides et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2002)
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey
C Dionisi-Vici et al.
JOURNAL OF PEDIATRICS (2002)
Liver transplantation in a case of argininaemia
ES Silva et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2001)
Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators
S Picca et al.
PEDIATRIC NEPHROLOGY (2001)
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
S Salvi et al.
NEUROLOGY (2001)
Emergency treatment of neonatal hyperammonaemic coma with mild systemic hypothermia
A Whitelaw et al.
LANCET (2001)
Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases
MS Rashed
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2001)
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts
B Rapp et al.
EUROPEAN JOURNAL OF PEDIATRICS (2001)
Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients
AB Burlina et al.
MOLECULAR GENETICS AND METABOLISM (2001)
Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding
M Trivedi et al.
JOURNAL OF CLINICAL GASTROENTEROLOGY (2001)
Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency
H Nagasaka et al.
JOURNAL OF PEDIATRICS (2001)
Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes
M Potter et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2001)
Proceedings of a consensus conference for the management of patients with urea cycle disorders
M Summar et al.
JOURNAL OF PEDIATRICS (2001)
Current strategies for the management of neonatal urea cycle disorders
M Summar
JOURNAL OF PEDIATRICS (2001)
The nutritional management of urea cycle disorders
JV Leonard
JOURNAL OF PEDIATRICS (2001)
Psychosocial issues and coping strategies in families affected by urea cycle disorders
JA Cederbaum et al.
JOURNAL OF PEDIATRICS (2001)
Long-term management of patients with urea cycle disorders
GT Berry et al.
JOURNAL OF PEDIATRICS (2001)
Alternative pathway therapy for urea cycle disorders: Twenty years later
ML Batshaw et al.
JOURNAL OF PEDIATRICS (2001)
Ornithine carbamoyltransferase deficiency presenting with chorea in a female
EJ Wiltshire et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants
E Riudor et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
V Praphanproj et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)