Hervé Puy

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Publications in SciGraph latest 50 shown

  • 2018-12 Iron deficiency diagnosed using hepcidin on critical care discharge is an independent risk factor for death and poor quality of life at one year: an observational prospective study on 1161 patients in CRITICAL CARE
  • 2018-07 Characterization and origin of heme precursors in amniotic fluid: lessons from normal and pathological pregnancies in PEDIATRIC RESEARCH
  • 2018-03 Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm in METABOLOMICS
  • 2018-01 Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm in METABOLOMICS
  • 2015-08 High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria in KIDNEY INTERNATIONAL
  • 2013-12 Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice in MAMMALIAN GENOME
  • 2013-10 Hepcidin regulates intrarenal iron handling at the distal nephron in KIDNEY INTERNATIONAL
  • 2013-06 Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2012-02 ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis in NATURE GENETICS
  • 2012-02 Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior in NATURE GENETICS
  • 2010-06 Diagnostic accuracy of serum hepcidin for iron deficiency in critically ill patients with anemia in INTENSIVE CARE MEDICINE
  • 2009-12 Erythropoietic protoporphyria in ORPHANET JOURNAL OF RARE DISEASES
  • 2006-02 Biochemical compared to molecular diagnosis in acute intermittent porphyria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2004-03 Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases in BRITISH JOURNAL OF CANCER
  • 2004-02 Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias in HUMAN GENETICS
  • 2002-06 A molecular, enzymatic and clinical study in a family with hereditary coproporphyria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2002-01 Koexistenz von hereditärer Koproporphyrie und Porphyria cutanea tarda: Eine neue Form einer dualen Porphyrie in MEDIZINISCHE KLINIK
  • 2002-01 The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH in NATURE GENETICS
  • 2001-08 Influence of Age and Gender on the Clinical Expression of Acute Intermittent Porphyria Based on Molecular Study of Porphobilinogen Deaminase Gene Among Swiss Patients in MOLECULAR MEDICINE
  • 2000-08 Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms in HUMAN GENETICS
  • 1998-11 Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria in HUMAN GENETICS
  • 1998-09 Mutations in the Ferrochelatase Gene of Four Spanish Patients with Erythropoietic Protoporphyria in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 1995-04 Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria in JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
  • 1995-04 Porphobilinogen deaminase gene structure and molecular defects in JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
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