UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.957-967

2015

Volltextzugriff (PDF)

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.863-872

2015

Volltextzugriff (PDF)

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

American journal of human genetics, 2013-09, Vol.93 (3), p.506-514

2013

Volltextzugriff (PDF)

Propionic acidemia: neonatal versus selective metabolic screening

Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.41-49

2012

Volltextzugriff (PDF)

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Human mutation, 2005-12, Vol.26 (6), p.590-590

2005

Volltextzugriff (PDF)

Prenatal and postnatal treatment in cobalamin C defect

The Journal of pediatrics, 2005-10, Vol.147 (4), p.469-472

2005

Volltextzugriff (PDF)

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Human mutation, 2005-03, Vol.25 (3), p.239-247

2005

Volltextzugriff (PDF)

Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease

American journal of medical genetics, 2004-11, Vol.131A (1), p.101-102

2004

Volltextzugriff (PDF)

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

American journal of human genetics, 2004-11, Vol.75 (5), p.790-800

2004

Volltextzugriff (PDF)

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

The Journal of biological chemistry, 2004-10, Vol.279 (41), p.42742-42749

2004

Volltextzugriff (PDF)

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

European journal of pediatrics, 2003-12, Vol.162 Suppl 1, p.S46-S49

2003

Volltextzugriff (PDF)

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects

Molecular genetics and metabolism, 2003-07, Vol.79 (3), p.160-166

2003

Volltextzugriff (PDF)

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.361-369

2003

Volltextzugriff (PDF)

Seventeen novel mutations that cause profound biotinidase deficiency

Molecular genetics and metabolism, 2002-09, Vol.77 (1), p.108-111

2002

Volltextzugriff (PDF)

Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion

International journal for vitamin and nutrition research, 2002-07, Vol.72 (4), p.278-286

2002

Volltextzugriff (PDF)

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

European journal of pediatrics, 2001-05, Vol.160 (5), p.277-282

2001

Volltextzugriff (PDF)

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

The Journal of clinical investigation, 2001-02, Vol.107 (4), p.495-504

2001

Volltextzugriff (PDF)

3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father

European journal of pediatrics, 2000-12, Vol.159 (12), p.901-904

2000

Volltextzugriff (PDF)

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency

Pediatric research, 1999-12, Vol.46 (6), p.671-676

1999

Volltextzugriff (PDF)

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

European journal of pediatrics, 1999-09, Vol.158 (9), p.730-733

1999

Volltextzugriff (PDF)

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

Human genetics, 1999-02, Vol.104 (2), p.143-148

1999

Volltextzugriff (PDF)

Late-onset holocarboxylase synthetase-deficiency : pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

European journal of pediatrics, 1998-07, Vol.157 (7), p.570-575

1998

Volltextzugriff (PDF)

Five patients with a biotin-responsive defect in holocarboxylase formation : Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

Pediatric research, 1997-05, Vol.41 (5), p.666-673

1997

Volltextzugriff (PDF)

BiotinidaseKm‐variants: detection and detailed biochemical investigations

Journal of inherited metabolic disease, 1995-11, Vol.18 (6), p.689-700

1995

Volltextzugriff (PDF)

Biotinidase Km-variants : detection and detailed biochemical investigations

Journal of inherited metabolic disease, 1995, Vol.18 (6), p.689-700

1995

Volltextzugriff (PDF)

1 – 25 von 37

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(37)
Mit Volltextzugriff
(37)

Publikationsform

Artikel
(37)

Sprache

Englisch
(35)
Deutsch
(2)

Erscheinungsjahr

n.n

Thema

Humans
(32)
Life Sciences & Biomedicine
(29)
Science & Technology
(29)
Biological And Medical Sciences
(21)
Female
(20)
Male
(20)
Medical Sciences
(20)
Metabolic Diseases
(19)
Infant
(18)
Pediatrics
(16)
Errors Of Metabolism
(15)
Infant, Newborn
(15)
Genetics & Heredity
(13)
Child
(11)
Child, Preschool
(11)
Adolescent
(10)
Amidohydrolases - Deficiency
(10)
Biotin - Therapeutic Use
(10)
Biotinidase
(10)
Miscellaneous Hereditary Metabolic Disorders
(10)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Propionic acidemia: neonatal versus selective metabolic screening

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Prenatal and postnatal treatment in cobalamin C defect

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

Seventeen novel mutations that cause profound biotinidase deficiency

Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

Late-onset holocarboxylase synthetase-deficiency : pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

Five patients with a biotin-responsive defect in holocarboxylase formation : Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

BiotinidaseKm‐variants: detection and detailed biochemical investigations

Biotinidase Km-variants : detection and detailed biochemical investigations

Suchergebnisse filtern