S. Beblo

发表

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

R. Abou Jamra, J. Lemke, M. Radtke, 2021, European journal of human genetics : EJHG.

'Exome first' approach can reduce diagnostic costs and time - retrospective single centre analysis of 111 individuals with rare neurodevelopmental disorders

J. Lemke, R. Jamra, M. Radtke, 2021, medRxiv.

Alcohol consumption in pregnant, black women is associated with decreased plasma and erythrocyte docosahexaenoic acid.

J. Janisse, R. Sokol, J. Hannigan, 2005, Alcoholism, clinical and experimental research.

Comparison of bloodstream fatty acid composition from African-American women at gestation, delivery, and postpartums⃞s⃞ The online version of this article (available at http://www.jlr.org) contains an additional three tables. Published, JLR Papers in Press, December 16, 2004. DOI 10.1194/jlr.M400394

J. Janisse, R. Sokol, J. Hannigan, 2005, Journal of Lipid Research.

Addison's Disease and Severe Encephalopathy in an Infant with HIV Infection

J. Allmendinger, V. Schuster, R. Pfäffle, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

S. Diederich, Y. Amraoui, M. Smitka, 2019, The Journal of pediatrics.

LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism

U. Ceglarek, J. Thiery, K. Mohnike, 2015, Analytical and Bioanalytical Chemistry.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Maximilian E. R. Weiss, K. Kandaswamy, K. Lohmann, 2019, American journal of human genetics.

Status of plasma folate after folic acid fortification of the food supply in pregnant African American women and the influences of diet, smoking, and alcohol consumption.

J. Janisse, R. Sokol, J. Hannigan, 2005, The American journal of clinical nutrition.

Growth and Final Height Among Children With Phenylketonuria

C. Baerwald, M. Scholz, W. Kiess, 2017, Pediatrics.

Omega-3 LC-PUFA Supply and Neurological Outcomes in Children With Phenylketonuria (PKU)

B. Koletzko, H. Demmelmair, S. Beblo, 2009, Journal of pediatric gastroenterology and nutrition.

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

V. Mootha, B. Paw, S. Dimauro, 2013, American journal of human genetics.

Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life

U. Ceglarek, J. Thiery, W. Kiess, 2012, Journal of Inherited Metabolic Disease.

Does dietary DHA improve neural function in children? Observations in phenylketonuria.

B. Koletzko, H. Demmelmair, W. Müller-Felber, 2009, Prostaglandins, leukotrienes, and essential fatty acids.

Cytochrome c Oxidase Biogenesis in a Patient with a Mutation in COX 10 Gene

J. Smeitink, L. Nijtmans, C. Ugalde, 2004 .

Mutation analysis in 54 propionic acidemia patients

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

G. Hoffmann, J. Häberle, A. Burlina, 2016, Orphanet Journal of Rare Diseases.

PKU patients on a relaxed diet may be at risk for micronutrient deficiencies

C. Baerwald, W. Kiess, J. Gerloff, 2014, European Journal of Clinical Nutrition.

Metabolomics of Dietary Fatty Acid Restriction in Patients with Phenylketonuria

M. Bruegel, B. Koletzko, U. Ceglarek, 2012, PLoS ONE.

Adenosine endogenously released during early reperfusion mitigates postischemic myocardial dysfunction by inhibiting platelet adhesion.

S. Zahler, C. Kupatt, B. F. Becker, 1998, Journal of cardiovascular pharmacology.

Transition of young adults with phenylketonuria from pediatric to adult care

C. Baerwald, W. Kiess, J. Weigel, 2011, Journal of Inherited Metabolic Disease.

Fish oil supplementation improves visual evoked potentials in children with phenylketonuria

B. Koletzko, A. Roscher, A. Muntau, 2001, Neurology.

Propionic acidemia: neonatal versus selective metabolic screening

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)).

U. Ceglarek, J. Thiery, W. Kiess, 2013, JIMD reports.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply

C. Baerwald, U. Ceglarek, J. Thiery, 2015, Molecular genetics and metabolism reports.

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

M. Baumgartner, S. Grünert, T. Marquardt, 2020, Journal of inherited metabolic disease.

Effects of Alcohol Intake During Pregnancy on Docosahexaenoic Acid and Arachidonic Acid in Umbilical Cord Vessels of Black Women

J. Janisse, R. Sokol, J. Hannigan, 2005, Pediatrics.

Ten years of specialized adult care for phenylketonuria – a single-centre experience

C. Baerwald, U. Ceglarek, W. Kiess, 2016, Orphanet Journal of Rare Diseases.

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

M. Baumgartner, T. Suormala, S. Grünert, 2013, Orphanet Journal of Rare Diseases.

Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional study

N. Pandis, S. Beblo, E. Mönch, 2023, Clinical oral investigations.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

S. Grünert, T. Marquardt, S. Kölker, 2021, Journal of inherited metabolic disease.

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

M. Langeveld, T. Coşkun, S. Huijbregts, 2021, Molecular genetics and metabolism.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

S. Kölker, R. Santer, P. Burgard, 2022, Journal of inherited metabolic disease.

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

M. Baumgartner, S. Grünert, T. Marquardt, 2018, Annals of neurology.

Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria.

B. Koletzko, H. Demmelmair, A. Muntau, 2007, The Journal of pediatrics.

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

M. Baumgartner, S. Grünert, S. Kölker, 2021, Scientific Reports.

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

J. Smeitink, L. P. Van den Heuvel, L. Nijtmans, 2004, Annals of neurology.

Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia

R. Gebhardt, W. Kiess, F. Schlensog-Schuster, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional study

N. Pandis, S. Beblo, E. Mönch, 2023, Clinical Oral Investigations.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

H. Tegetmeyer, J. Lemke, S. Syrbe, 2016, Molecular genetics and metabolism reports.

Transient Hyperammonemia Due to L -Asparaginase Therapy in Children with Acute Lymphoblastic Leukemia or Non-Hodgkin Lymphoma

W. Kiess, J. Weigel, U. Bierbach, 2011, Pediatric hematology and oncology.

Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

A. Thiele, S. Beblo, U. Meyer, 2015, Molecular genetics and metabolism reports.

Unrestricted fruits and vegetables in the PKU diet: a 1-year follow-up

U. Ceglarek, J. Thiery, S. Schulz, 2014, European Journal of Clinical Nutrition.

Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control

U. Ceglarek, J. Thiery, W. Kiess, 2012, European Journal of Clinical Nutrition.

Simplifying the diet for patients with phenylketonuria (PKU): unrestricted consumption of fruit and vegetables

W. Kiess, A. Thiele, S. Beblo, 2014 .

PKU dietary handbook to accompany PKU guidelines

T. Coşkun, S. Huijbregts, A. Macdonald, 2020, Orphanet Journal of Rare Diseases.

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

C. Baerwald, A. Thiele, S. Beblo, 2021, Orphanet Journal of Rare Diseases.

Psychological well‐being of early and continuously treated phenylketonuria patients

W. Kiess, R. Ascherl, A. Thiele, 2021, JIMD reports.

Inborn errors of metabolism

W. Kiess, S. Beblo, Anna S. Kirstein, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Influence of intact left atrial appendage on hemodynamic parameters of isolated guinea pig heart.

S. Zahler, B. F. Becker, P. Massoudy, 1998, European journal of medical research.

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

M. Hochuli, A. Das, Sebene Mayorandan, 2020, Nutrients.

Validity, Reliability, and Responsiveness of a New Measure of Health-Related Quality of Life in Children with Immune Thrombocytopenic Purpura: The Kids' ITP Tools

T. Suppes, S. Daniels, L. Altshuler, 2007 .

Recurrent Myalgia since Early Infancy—Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency

U. Ceglarek, S. Zierz, A. Merkenschlager, 2019, Neuropediatrics.

J. Janisse, R. Sokol, J. Hannigan, 2005, Journal of Lipid Research.

Journal of Inherited Metabolic Disease

Heidelberg, Padova, C., 1991, Springer Netherlands.

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

S. Kölker, M. Lindner, R. Santer, 2023, Journal of inherited metabolic disease.

The Angelman Syndrome Online Registry - A multilingual approach to support global research.

R. Møller, J. Lemke, S. Weckhuysen, 2021, European journal of medical genetics.