Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 191-194

  Frank, Graeme R ^a   Fox, Joyce ^a   Candela, Ninfa ^a   Jovanovic, Zorica ^b   Bochukova, Elena ^b   Levine, Jeremiah ^a   Papenhausen, Peter R ^c   O'Rahilly, Stephen ^b   Farooqi, I Sadaf ^b  

^a Northwell Health   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

Obesity; Prohormones

Indexed keywords

AMINO ACID; AMINOPEPTIDASE; CALPASTATIN; CHLORIDE; DESMOPRESSIN; ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; HYDROCORTISONE; INSULIN; PROPROTEIN CONVERTASE 1; SODIUM; TESTOSTERONE; THYROXINE; UNCLASSIFIED DRUG; VASOPRESSIN; SERINE PROTEINASE;

ALLELE; ANDROGEN THERAPY; ARTICLE; BASE PAIRING; CALORIC INTAKE; CASE REPORT; CHILD; CHLORIDE BLOOD LEVEL; COLITIS; COLON ULCER; CONTROLLED STUDY; DIABETES INSIPIDUS; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME DEFICIENCY; EOSINOPHIL; FATHER; FRAMESHIFT MUTATION; FREE THYROXINE INDEX; GASTROINTESTINAL ENDOSCOPY; GENE DELETION; GENE PROBE; HETEROZYGOTE; HOMOZYGOTE; HORMONE SUBSTITUTION; HUMAN; HYPOPITUITARISM; HYPOTHYROIDISM; INHERITANCE; INSULIN BLOOD LEVEL; MALE; MICROARRAY ANALYSIS; MICROPENIS; MOTHER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NOSE FEEDING; NUCLEOTIDE SEQUENCE; OBESITY; OSMOREGULATION; PARENTERAL NUTRITION; PHENOTYPE; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; RELATIVE DENSITY; SEPSIS; SERUM OSMOLALITY; SIGMOIDOSCOPY; SINGLE NUCLEOTIDE POLYMORPHISM; SODIUM BLOOD LEVEL; STOP CODON; TESTOSTERONE BLOOD LEVEL; THYROXINE BLOOD LEVEL; VERNER MORRISON SYNDROME; WEIGHT GAIN; COMPLICATION; DEFICIENCY; ENDOCRINE DISEASE; GENETICS; INFANT; MORBID OBESITY; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

ALLELES; CHILD, PRESCHOOL; DIABETES INSIPIDUS; ENDOCRINE SYSTEM DISEASES; HETEROZYGOTE; HUMANS; INFANT; MUTATION; OBESITY; OBESITY, MORBID; OSMOREGULATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPROTEIN CONVERTASE 1; PROPROTEIN CONVERTASES;

EID: 84882845778     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.005     Document Type: Article

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