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...

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency

BMC neuroscience, 2022-12, Vol.23 (1), p.77-77, Article 77

2022

Volltextzugriff (PDF)

The Role of the Gut Microbiome in the Development of Acute Pancreatitis

International journal of molecular sciences, 2024-01, Vol.25 (2), p.1159

2024

Volltextzugriff (PDF)

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets

Calcified tissue international, 2022-02, Vol.110 (2), p.266-271

2022

Volltextzugriff (PDF)

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.198-198, Article 198

2024

Volltextzugriff (PDF)

Natural history and outcome of nonketotic hyperglycinemia in China

Frontiers in neurology, 2024-08, Vol.15, p.1440883

2024

Volltextzugriff (PDF)

Thyroid function in children with Prader-Willi syndrome in Southern China: a single-center retrospective case series

BMC pediatrics, 2022-04, Vol.22 (1), p.234-234, Article 234

2022

Volltextzugriff (PDF)

Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children

BMC gastroenterology, 2022-03, Vol.22 (1), p.124-124, Article 124

2022

Volltextzugriff (PDF)

Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography–tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects

Journal of Chromatography A, 2013-12, Vol.1319, p.97-106

2013

Volltextzugriff (PDF)

Features of chinese patients with sitosterolemia

Lipids in health and disease, 2022-01, Vol.21 (1), p.11-11, Article 11

2022

Volltextzugriff (PDF)

Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2013-08, Vol.932, p.12-18

2013

Volltextzugriff (PDF)

Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China

Pediatric Gastroenterology, 2020, Hepatology & Nutrition, 23(6), , pp.558-566

2020

Volltextzugriff (PDF)

Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study

Frontiers in pediatrics, 2022-11, Vol.10, p.1007219-1007219

2022

Volltextzugriff (PDF)

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China

Journal of Pediatric Endocrinology and Metabolism, 2015-03, Vol.28 (3-4), p.375

2015

Volltextzugriff (PDF)

A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population

Clinica chimica acta, 2024-01, Vol.552, p.117653-117653, Article 117653

2024

Volltextzugriff (PDF)

Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model

European journal of pharmacology, 2024-03, Vol.967, p.176379-176379, Article 176379

2024

Volltextzugriff (PDF)

Research advances in the molecular classification of gastric cancer

Cellular oncology (Dordrecht), 2024-10, Vol.47 (5), p.1523-1536

2024

Volltextzugriff (PDF)

Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China

Clinica chimica acta, 2018-11, Vol.486, p.142-150

2018

Volltextzugriff (PDF)

'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets

European journal of endocrinology, 2020-01, Vol.182 (1), p.K1-K6

2020

Volltextzugriff (PDF)

Rapid quantification of metabolic intermediates in blood by liquid chromatography-tandem mass spectrometry to investigate congenital lactic acidosis

Analytica chimica acta, 2016-10, Vol.942, p.50-57

2016

Volltextzugriff (PDF)

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants

Metabolic brain disease, 2024-06, Vol.39 (5), p.753-762

2024

Volltextzugriff (PDF)

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome

Pediatric nephrology (Berlin, West), 2024-08, Vol.39 (8), p.2377-2391

2024

Volltextzugriff (PDF)

The effect of fertility stress on endometrial and subendometrial blood flow among infertile women

Reproductive biology and endocrinology, 2017-03, Vol.15 (1), p.15-15, Article 15

2017

Volltextzugriff (PDF)

A NEW WEARABLE BRACE MONITORING MULTIPLE PHYSIOLOGICAL PARAMETERS BASED ON THE NB-IoT TECHNIQUE

Journal of mechanics in medicine and biology, 2022-10, Vol.22 (8)

2022

Volltextzugriff (PDF)

RESEARCH ON WIDE SPECTRUM FULL-COLOR NIGHT VISION ELDERLY FACIAL VIDEO HEART RATE AUTOMATIC MEASUREMENT AND WARNING SYSTEM

Journal of mechanics in medicine and biology, 2023-10, Vol.23 (8)

2023

Volltextzugriff (PDF)

Features of liver injury in 138 Chinese patients with NICCD

Journal of Pediatric Endocrinology and Metabolism, 2023-12, Vol.36 (12), p.1154-1160

2023

Volltextzugriff (PDF)

1 – 25 von 124

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(110)
Mit Volltextzugriff
(109)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency

The Role of the Gut Microbiome in the Development of Acute Pancreatitis

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

Natural history and outcome of nonketotic hyperglycinemia in China

Thyroid function in children with Prader-Willi syndrome in Southern China: a single-center retrospective case series

Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children

Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography–tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects

Features of chinese patients with sitosterolemia

Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization

Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China

Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China

A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population

Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model

Research advances in the molecular classification of gastric cancer

Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China

'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets

Rapid quantification of metabolic intermediates in blood by liquid chromatography-tandem mass spectrometry to investigate congenital lactic acidosis

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome

The effect of fertility stress on endometrial and subendometrial blood flow among infertile women

A NEW WEARABLE BRACE MONITORING MULTIPLE PHYSIOLOGICAL PARAMETERS BASED ON THE NB-IoT TECHNIQUE

RESEARCH ON WIDE SPECTRUM FULL-COLOR NIGHT VISION ELDERLY FACIAL VIDEO HEART RATE AUTOMATIC MEASUREMENT AND WARNING SYSTEM

Features of liver injury in 138 Chinese patients with NICCD

Suchergebnisse filtern