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Georg F. Hoffmann (1957-)

Arzt

Name	Georg F. Hoffmann
Time	1957- (Date of birth and death)
Place	Heidelberg (Wirkungsort) Deutschland
Gender	männlich
Academic degree	Prof. Dr. med., Prof. h.c. (RCH)
Profession	Arzt (characteristic profession) Kinderarzt
Variant	Georg Friedrich Hoffmann G. F. Hoffmann Georg Hoffmann Georg-Friedrich Hoffmann
Related	Zentrum für Kinder- und Jugendmedizin (Heidelberg) (1990/91-1993 und ab 12/1999) Philipps-Universität Marburg (1.1.1994-11/1999)
Further information	Leiter der Sektion Pädiatrische Stoffwechselerkrankungen, Univ.-Kinderklinik; Ärztlicher Direktor der Klinik Kinderheilkunde
Source	Kürschner Gelehrte (1996) LCAuth
Record type	Person
GND-Identifier	115652868
Record ID	115652868
Involved in show all Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders Genetic landscape of pediatric acute liver failure of indeterminate origin Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project) Die Interdisziplinäre Familienmedizinische Sprechstunde in der Kinderheilkunde – Ein integrativer Ansatz für komplex belastete Familien mit einem chronisch kranken Kind Transition for adolescents with a rare disease: results of a nationwide German project High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples Isovaleric aciduria identified by newborn screening: strategies to predict disease severity and stratify treatment Live‐virus neutralization of the omicron variant in children and adults 14 months after SARS‐CoV‐2 wild‐type infection Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening Seltene Erkrankungen Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ) Transient elastography correlated to four different histological fibrosis scores in children with liver disease Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ) Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3 Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ) Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial Prevalence of SARS-CoV-2 infection in children and their parents in Southwest Germany Publisher correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Refining genotypes and phenotypes in KCNA2-related neurological disorders The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Transient elastography correlated to four different histological fibrosis scores in children with liver disease Vademecum metabolicum : Diagnose und Therapie erblicher Stoffwechselkrankheiten Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ) Vitamin B12 Deficiency in Newborns and their Mothers—Novel Approaches to Early Detection, Treatment and Prevention of a Global Health Issue Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis—implications for process quality and patient care Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies Vitamin-B12-Mangel im Neugeborenen- und Säuglingsalter – Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas Seltene Erkrankungen in der Pädiatrie – von der Diagnostik und Behandlung einzelner Erkrankungen zum Aufbau von Netzwerkstrukturen Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation Axenfeld-Rieger Anomaly and Neuropsychiatric Problems—More than Meets the Eye Inherited disorders of biogenic amines: a practical guide Inherited Disorders of Biogenic Amines: A Practical Guide Pädiatrie : Grundlagen und Praxis Pädiatrie : Grundlagen und Praxis Band 1 Pädiatrie : Grundlagen und Praxis Band 2 Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood Vademecum metabolicum : diagnosis and treatment of inherited metabolic disorders Gentherapien für neuromuskuläre Erkrankungen Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study Intake of 12 food groups and disability-adjusted life years from coronary heart disease, stroke, type 2 diabetes, and colorectal cancer in 16 European countries High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases Pediatric in-hospital emergencies: real life experiences, previous training and the need for training among physicians and nurses Intake of 12 food groups and disability-adjusted life years from coronary heart disease, stroke, type 2 diabetes, and colorectal cancer in 16 European countries Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

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Katalog der Deutschen Nationalbibliothek

Georg F. Hoffmann (1957-)

Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders

Genetic landscape of pediatric acute liver failure of indeterminate origin

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)

Die Interdisziplinäre Familienmedizinische Sprechstunde in der Kinderheilkunde – Ein integrativer Ansatz für komplex belastete Familien mit einem chronisch kranken Kind

Transition for adolescents with a rare disease: results of a nationwide German project

High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

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

Live‐virus neutralization of the omicron variant in children and adults 14 months after SARS‐CoV‐2 wild‐type infection

Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

Seltene Erkrankungen

Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy

Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE

An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Transient elastography correlated to four different histological fibrosis scores in children with liver disease

Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial

Prevalence of SARS-CoV-2 infection in children and their parents in Southwest Germany

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

Refining genotypes and phenotypes in KCNA2-related neurological disorders

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

Transient elastography correlated to four different histological fibrosis scores in children with liver disease

Vademecum metabolicum : Diagnose und Therapie erblicher Stoffwechselkrankheiten

Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)

Vitamin B12 Deficiency in Newborns and their Mothers—Novel Approaches to Early Detection, Treatment and Prevention of a Global Health Issue

Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis—implications for process quality and patient care

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

Vitamin-B12-Mangel im Neugeborenen- und Säuglingsalter – Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas

Seltene Erkrankungen in der Pädiatrie – von der Diagnostik und Behandlung einzelner Erkrankungen zum Aufbau von Netzwerkstrukturen

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems—More than Meets the Eye

Inherited disorders of biogenic amines: a practical guide

Inherited Disorders of Biogenic Amines: A Practical Guide

Pädiatrie : Grundlagen und Praxis

Pädiatrie : Grundlagen und Praxis

Pädiatrie : Grundlagen und Praxis

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Vademecum metabolicum : diagnosis and treatment of inherited metabolic disorders

Gentherapien für neuromuskuläre Erkrankungen

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Intake of 12 food groups and disability-adjusted life years from coronary heart disease, stroke, type 2 diabetes, and colorectal cancer in 16 European countries

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases

Pediatric in-hospital emergencies: real life experiences, previous training and the need for training among physicians and nurses

Intake of 12 food groups and disability-adjusted life years from coronary heart disease, stroke, type 2 diabetes, and colorectal cancer in 16 European countries

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)

Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)