Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

European Journal of Pediatrics

Volumn 174, Issue 7, 2015, Pages 975-980

  van der Pol, Rachel J ^a   Benninga, Marc A ^a   Magré, Jocelyne ^b,c   Van Maldergem, Lionel ^d   Rotteveel, Joost ^e   van der Knaap, Marjo S ^e   de Meij, Tim G ^e  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^c L INSTITUT DU THORAX   (France)

^d UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Achalasia; Berardinelli Seip congenital lipodystrophy; Manometry

Indexed keywords

CREATINE KINASE; HEMOGLOBIN A1C; INSULIN DETEMIR; MEDIUM CHAIN TRIACYLGLYCEROL; METFORMIN; PTRF PROTEIN, HUMAN; RNA BINDING PROTEIN; STOP CODON;

ADOLESCENT; ARTICLE; CASE REPORT; CONGENITAL GENERALIZED LIPODYSTROPHY; COUGHING; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DYSPHAGIA; ECHOGRAPHY; ESOPHAGEAL MANOMETER; ESOPHAGOGRAPHY; ESOPHAGUS ACHALASIA; ESOPHAGUS DILATATION; FAILURE TO THRIVE; FATTY LIVER; FEMALE; FOLLOW UP; FOOD REGURGITATION; HEMOGLOBIN BLOOD LEVEL; HEPATOSPLENOMEGALY; HIP DYSPLASIA; HIRSUTISM; HUMAN; HYPERGLYCEMIA; HYPERINSULINISM; HYPERTRIGLYCERIDEMIA; INCREASED APPETITE; INSULIN RESISTANCE; LOW CARBOHYDRATE DIET; MACROGLOSSIA; MEDICAL HISTORY; MUSCLE HYPERTROPHY; NAUSEA AND VOMITING; ODYNOPHAGIA; ONSET AGE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SUBCUTANEOUS FAT DISORDER; COMPLICATION; ESOPHAGEAL ACHALASIA; GENETICS; STOP CODON;

ADOLESCENT; CODON, NONSENSE; ESOPHAGEAL ACHALASIA; FEMALE; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; RNA-BINDING PROTEINS;

EID: 84931571737     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-015-2556-y     Document Type: Article

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