Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

scientific article published on 22 November 2005

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S00247-005-0001-5
P698PubMed publication ID16328327

P50authorValérie Cormier-DaireQ28321938
Lucie Hertz-PannierQ45584231
Nathalie SetaQ51027102
P2093author name stringPascale de Lonlay
Patrick Niaudet
Francis Brunelle
Jean-Marie Saudubray
Martine Sinico
Sophie Emond
Michele Déchaux
P2860cites workA broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesQ24680839
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)Q28142744
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorderQ28183602
Role of polycystins in renal tubulogenesisQ28204194
Biological roles of oligosaccharides: all of the theories are correctQ29616459
Intracellular functions of N-linked glycansQ29617165
New insights: nephronophthisis-medullary cystic kidney diseaseQ30168383
Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.Q33630646
Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic diseaseQ33732436
Protein glucosylation and its role in protein foldingQ34019347
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).Q34027037
Glycosylation and the immune systemQ34195578
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!Q35188324
Structures and functions of the sugar chains of glycoproteinsQ35269641
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndromeQ35626621
The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvementQ36700441
Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional caseQ40788058
The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?Q40803578
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypesQ41741282
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delayQ41923728
Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delayQ42374257
Morphologic studies of the placenta and autopsy findings in neonatal-onset glutaric acidemia type II.Q43990466
From cilia to cyst.Q55036761
Sonographic measurements and appearance of normal kidneys in childrenQ69902949
[The carbohydrate deficient glycoprotein syndrome]Q70172832
Renal cysts in the carbohydrate-deficient glycoprotein syndromeQ70778553
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type IQ70869007
Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndromeQ71736132
A case of Pearson syndrome associated with multiple renal cystsQ71737536
Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndromeQ71943546
[Renal cystic disease in mitochondrial disorders]Q74109269
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation IaQ74171212
Medullary cystic disease: a family studyQ74458103
Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhoodQ74580767
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial diseaseQ74597805
Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus samplingQ77100262
P433issue2
P921main subjectglycosylationQ898365
P304page(s)108-114
P577publication date2005-11-22
P1433published inPediatric RadiologyQ7159214
P1476titleCongenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes
P478volume36

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cites work (P2860)
Q56266294Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings
Q50211745Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Q88356313Recognizable phenotypes in CDG
Q49922693Renal involvement in PMM2-CDG, a mini-review.

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