Search Results - "Hoffmann GF"

Mevalonate kinase deficiency and autoinflammatory disorders.

Authors: Haas D Hoffmann GF

Source: New England Journal of Medicine. 6/28/2007, Vol. 356 Issue 26, p2671-2673. 3p.

URL: 25548873

Vitamin D deficiency in healthy children in a sunny country: associated factors.

Authors: Bener A Al-Ali M Hoffmann GF

Source: International Journal of Food Sciences & Nutrition. 2009 Suppl 5, Vol. 60, p60-70.

Congenital glutamine deficiency with glutamine synthetase mutations.

Authors: Kölker S Hoffmann GF Okun JG et al.

Source: New England Journal of Medicine. 3/9/2006, Vol. 354 Issue 10, p1093-1094. 2p.

Principles of pediatric emergency care.

Authors: Meyburg J Bernhard M Hoffmann GF et al.

Source: Deutsches Ärzteblatt International. 11/6/2009, Vol. 106 Issue 45, p739-I. 11p.

URL: 45432514

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.

Authors: Bagci S Zschocke J Hoffmann GF et al.

Source: Archives of Disease in Childhood -- Fetal & Neonatal Edition. Mar2008, Vol. 93 Issue 2, pF151-2. 1p.

Outcome of parent-physician communication skills training for pediatric residents.

Authors: Nikendei C Bosse HM Hoffmann K et al.

Source: Patient Education & Counseling. Jan2011, Vol. 82 Issue 1, p94-99. 6p.

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.

Authors: Stojanov S Lohse P Hoffmann F et al.

Source: Arthritis & Rheumatism. Jun2004, Vol. 50 Issue 6, p1951-1958. 8p.

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Authors: Prietsch V Mayatepek E Krastel H et al.

Source: Pediatrics. Feb2003, Vol. 111 Issue 2, p258-261. 4p.

URL: 9340012

A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.

Authors: von Mering M Gabriel H Opladen T et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Feb2008, Vol. 79 Issue 2, p229-229. 1p.

Transaldolase deficiency - natural disease course towards adulthood.

Authors: Horvath VB Tsiakas K Brennenstuhl H et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109872. Date of Electronic Publication: 2026 Mar 03.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Interpretation of Pharmacometabolomics Results: Fingerprint of Drug Exposure or Confounder Effects? Insights from a Urinary Metabolomics Study with Voriconazole in Healthy Participants.

Authors: Chobanyan-Jürgens K Muhareb A Niesert M et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2026 May 16; Vol. 27 (10). Date of Electronic Publication: 2026 May 16.

Publication Type: Journal Article; Clinical Trial

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria.

Authors: Gondrand C Reischl-Hajiabadi AT Bonedeau E et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2026 May; Vol. 49 (3), pp. e70187.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF.

Authors: Christ S Rossmann J Richter S et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2026 May; Vol. 49 (3), pp. e70167.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.

Authors: Sun T Hammann N Leghlam L et al.

Source: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2026 Aug; Vol. 46 (8), pp. e70762.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print Cited Medium: Internet ISSN: 1478-3231 (Electronic) Linking ISSN: 14783223 NLM ISO Abbreviation: Liver Int Subsets: MEDLINE

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Authors: Scharre S Hess AL Gleich F et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2026 Jul; Vol. 49 (4), pp. e70210.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Evaluation of extraction methods for the determination of urinary sulfatides by LC-MS/MS.

Authors: Janda J Bürger F Geiger S et al.

Source: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences [J Chromatogr B Analyt Technol Biomed Life Sci] 2026 Jul 01; Vol. 1279, pp. 125106. Date of Electronic Publication: 2026 May 04.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101139554 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-376X (Electronic) Linking ISSN: 15700232 NLM ISO Abbreviation: J Chromatogr B Analyt Technol Biomed Life Sci Subsets: MEDLINE; In Process

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Authors: Hammann N Staufner C Schlieben LD et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 May; Vol. 48 (3), pp. e70035.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Authors: Posset R Epp F Garbade SF et al.

Source: Scientific reports [Sci Rep] 2026 Mar 18; Vol. 16 (1). Date of Electronic Publication: 2026 Mar 18.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Urinary Metabolomics Predict Acute Kidney Injury in Very-Low-Birth-Weight Infants with Patent Ductus Arteriosus.

Authors: Niesert M Cannet C Fichtner A et al.

Source: Biomolecules [Biomolecules] 2026 Mar 05; Vol. 16 (3). Date of Electronic Publication: 2026 Mar 05.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et al.

Authors: Burgard P Ballhausen D Hennermann JB et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101600.

Publication Type: Letter

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process