UB Paderborn / Katalog / Suche / in CDI

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.81-87

2008

Volltextzugriff (PDF)

Methylmalonic and propionic acidaemias: Management and outcome

Journal of inherited metabolic disease, 2005-05, Vol.28 (3), p.415-423

2005

Volltextzugriff (PDF)

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.507-516

2011

Volltextzugriff (PDF)

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

Journal of neurology, neurosurgery and psychiatry, 2008-06, Vol.79 (6), p.725-728

2008

Volltextzugriff (PDF)

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder

European journal of medical genetics, 2015-03, Vol.58 (3), p.148-153

2015

Volltextzugriff (PDF)

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

European journal of clinical nutrition, 2006-07, Vol.60 (7), p.915-920

2006

Volltextzugriff (PDF)

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.288-298

2006

Volltextzugriff (PDF)

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.341-348

2011

Volltextzugriff (PDF)

Mitochondria and diabetes mellitus: untangling a conflictive relationship

Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.684-698

2009

Volltextzugriff (PDF)

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797

2016

Volltextzugriff (PDF)

Early-onset hyperargininaemia: A severe disorder?

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.175-178

2009

Volltextzugriff (PDF)

Maternal and fetal tyrosinemia type I

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.507-510

2010

Volltextzugriff (PDF)

Niemann-Pick type C disease: clinical presentations in pediatric patients

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-06, Vol.17 Suppl 2, p.S45-S49

2010

Volltextzugriff (PDF)

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

Molecular genetics and metabolism, 2008-03, Vol.93 (3), p.323-330

2008

Volltextzugriff (PDF)

Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2012-02, Vol.19 (2), p.184-193

2012

Volltextzugriff (PDF)

Remethylation defects: guidelines for clinical diagnosis and treatment

European journal of pediatrics, 1998-04, Vol.157 Suppl 2 (S2), p.S77-S83

1998

Volltextzugriff (PDF)

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

Journal of inherited metabolic disease, 2014, Vol.37 (1), p.137-139

2014

Volltextzugriff (PDF)

Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : consensus français pour le dépistage, le diagnostic, et la prise en charge

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2012-02, Vol.19 (2), p.184-193

2012

Volltextzugriff (PDF)

Niemann-Pick type C disease: an early diagnosis for a therapeutic hope

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-06, Vol.17 Suppl 2, p.S39-S40

Ogier de Baulny, H

2010

Volltextzugriff (PDF)

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide : a retrospective review of 77 cases and analysis of efficacy-predicting criteria

European journal of pediatrics, 1998-08, Vol.157 (8), p.628-633

1998

Volltextzugriff (PDF)

Progression despite replacement of a myopathic form of coenzyme Q10 defect

Neurology, 2004-08, Vol.63 (4), p.727

2004

Volltextzugriff (PDF)

Risk of developing a mitochondrial DNA deletion disorder

The Lancet (British edition), 2004-08, Vol.364 (9434), p.592-596

2004

Volltextzugriff (PDF)

Clinical outcome of long-term management of patients with vitamin B 12-unresponsive methylmalonic acidemia

The Journal of pediatrics, 1994-12, Vol.125 (6), p.903-908

1994

Volltextzugriff (PDF)

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition

Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.700-704

2004

Volltextzugriff (PDF)

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

The Journal of pediatrics, 1994-12, Vol.125 (6), p.903-908

1994

Volltextzugriff (PDF)

Menü

Weitere Dienste

Einstellungen

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

Methylmalonic and propionic acidaemias: Management and outcome

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

Mitochondria and diabetes mellitus: untangling a conflictive relationship

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Early-onset hyperargininaemia: A severe disorder?

Maternal and fetal tyrosinemia type I

Niemann-Pick type C disease: clinical presentations in pediatric patients

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management

Remethylation defects: guidelines for clinical diagnosis and treatment

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : consensus français pour le dépistage, le diagnostic, et la prise en charge

Niemann-Pick type C disease: an early diagnosis for a therapeutic hope

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide : a retrospective review of 77 cases and analysis of efficacy-predicting criteria

Progression despite replacement of a myopathic form of coenzyme Q10 defect

Risk of developing a mitochondrial DNA deletion disorder

Clinical outcome of long-term management of patients with vitamin B 12-unresponsive methylmalonic acidemia

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

Suchergebnisse filtern