UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 176

Sortiert nach

High incidence of co‐existing GLA variants and stroke susceptibility

European journal of neurology, 2019-06, Vol.26 (6), p.e70-e70

2019

Volltextzugriff (PDF)

Management of Leigh syndrome: Current status and new insights

Clinical genetics, 2018-06, Vol.93 (6), p.1131-1140

2018

Volltextzugriff (PDF)

Disease progression in a pre‐symptomatically treated patient with juvenile‐onset Pompe disease – need for an earlier treatment?

European journal of neurology, 2018-10, Vol.25 (10), p.e111-e111

2018

Volltextzugriff (PDF)

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.243-249

2009

Volltextzugriff (PDF)

Pincer nail deformity as the main manifestation of Clouston syndrome

British journal of dermatology (1951), 2015-08, Vol.173 (2), p.581-583

2015

Volltextzugriff (PDF)

Experimental treatment of bilateral fetal chylothorax using in‐utero pleurodesis

Ultrasound in obstetrics & gynecology, 2012-01, Vol.39 (1), p.56-62

2012

Volltextzugriff (PDF)

Valproic acid treatment in six patients with spinal muscular atrophy

European journal of neurology, 2007-12, Vol.14 (12), p.e8-e9

2007

Volltextzugriff (PDF)

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

Journal of inherited metabolic disease, 2013, Vol.36 (1), p.129-137

2013

Volltextzugriff (PDF)

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

European journal of neurology, 2009-08, Vol.16 (8), p.912-919

2009

Volltextzugriff (PDF)

Treatment of Niemann-Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.826-826

2007

Volltextzugriff (PDF)

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Journal of neurology, 2008-06, Vol.255 (6), p.831-838

2008

Volltextzugriff (PDF)

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation

Pediatric transplantation, 2010-05, Vol.14 (3), p.337-341

2010

Volltextzugriff (PDF)

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Neurology, 2010-07, Vol.75 (1), p.64

2010

Volltextzugriff (PDF)

Deficiency of the carnitine transporter (OCTN2) with partial N‐acetylglutamate synthase (NAGS) deficiency

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.816-816

2007

Volltextzugriff (PDF)

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Journal of neurology, neurosurgery and psychiatry, 2005-04, Vol.76 (4), p.592-595

2005

Volltextzugriff (PDF)

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.250-254

2009

Volltextzugriff (PDF)

Plasma chitotriosidase activity and malaria

Clinica chimica acta, 2005-03, Vol.353 (1), p.215-215

2005

Volltextzugriff (PDF)

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti

Clinical genetics, 2009-10, Vol.76 (4), p.417-419

2009

Volltextzugriff (PDF)

Mapping of psoriasis to 17q terminus

Journal of medical genetics, 2005-02, Vol.42 (2), p.152-158

2005

Volltextzugriff (PDF)

Expert recommendations for the laboratory diagnosis of MPS VI

Molecular genetics and metabolism, 2012-05, Vol.106 (1), p.73-82

2012

Volltextzugriff (PDF)

Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): Interim results from the NURTURE study

European journal of paediatric neurology, 2017-06, Vol.21, p.e14-e14

2017

Volltextzugriff (PDF)

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation

Bone marrow transplantation (Basingstoke), 1999-07, Vol.24 (1), p.103-107

1999

Volltextzugriff (PDF)

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency

American journal of human genetics, 2001-04, Vol.68 (4), p.839-847

2001

Volltextzugriff (PDF)

Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease

Clinical genetics, 2003-03, Vol.63 (3), p.205-209

2003

Volltextzugriff (PDF)

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100744-100744, Article 100744

2021

Volltextzugriff (PDF)

1 – 25 von 176

Suche als RSS-Feed

Aktive Filter

ThemaInfant, Newborn

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(146)
Mit Volltextzugriff
(135)

Publikationsform

Sprache

Englisch
(174)
Japanisch
(14)
Russisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

High incidence of co‐existing GLA variants and stroke susceptibility

Management of Leigh syndrome: Current status and new insights

Disease progression in a pre‐symptomatically treated patient with juvenile‐onset Pompe disease – need for an earlier treatment?

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

Pincer nail deformity as the main manifestation of Clouston syndrome

Experimental treatment of bilateral fetal chylothorax using in‐utero pleurodesis

Valproic acid treatment in six patients with spinal muscular atrophy

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

Treatment of Niemann-Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Deficiency of the carnitine transporter (OCTN2) with partial N‐acetylglutamate synthase (NAGS) deficiency

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Plasma chitotriosidase activity and malaria

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti

Mapping of psoriasis to 17q terminus

Expert recommendations for the laboratory diagnosis of MPS VI

Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): Interim results from the NURTURE study

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency

Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

Aktive Filter

Suchergebnisse filtern