scholarly article | Q13442814 |
P356 | DOI | 10.1007/S00247-005-0001-5 |
P698 | PubMed publication ID | 16328327 |
P50 | author | Valérie Cormier-Daire | Q28321938 |
Lucie Hertz-Pannier | Q45584231 | ||
Nathalie Seta | Q51027102 | ||
P2093 | author name string | Pascale de Lonlay | |
Patrick Niaudet | |||
Francis Brunelle | |||
Jean-Marie Saudubray | |||
Martine Sinico | |||
Sophie Emond | |||
Michele Déchaux | |||
P2860 | cites work | A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases | Q24680839 |
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 disorder | Q28183602 | ||
Role of polycystins in renal tubulogenesis | Q28204194 | ||
Biological roles of oligosaccharides: all of the theories are correct | Q29616459 | ||
Intracellular functions of N-linked glycans | Q29617165 | ||
New insights: nephronophthisis-medullary cystic kidney disease | Q30168383 | ||
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 disease | Q33732436 | ||
Protein glucosylation and its role in protein folding | Q34019347 | ||
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 system | Q34195578 | ||
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! | Q35188324 | ||
Structures and functions of the sugar chains of glycoproteins | Q35269641 | ||
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome | Q35626621 | ||
The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement | Q36700441 | ||
Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case | Q40788058 | ||
The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? | Q40803578 | ||
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes | Q41741282 | ||
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay | Q41923728 | ||
Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay | Q42374257 | ||
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 children | Q69902949 | ||
[The carbohydrate deficient glycoprotein syndrome] | Q70172832 | ||
Renal cysts in the carbohydrate-deficient glycoprotein syndrome | Q70778553 | ||
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I | Q70869007 | ||
Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome | Q71736132 | ||
A case of Pearson syndrome associated with multiple renal cysts | Q71737536 | ||
Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome | Q71943546 | ||
[Renal cystic disease in mitochondrial disorders] | Q74109269 | ||
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia | Q74171212 | ||
Medullary cystic disease: a family study | Q74458103 | ||
Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood | Q74580767 | ||
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease | Q74597805 | ||
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 sampling | Q77100262 | ||
P433 | issue | 2 | |
P921 | main subject | glycosylation | Q898365 |
P304 | page(s) | 108-114 | |
P577 | publication date | 2005-11-22 | |
P1433 | published in | Pediatric Radiology | Q7159214 |
P1476 | title | Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes | |
P478 | volume | 36 |
Q56266294 | Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings |
Q50211745 | Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. |
Q88356313 | Recognizable phenotypes in CDG |
Q49922693 | Renal involvement in PMM2-CDG, a mini-review. |
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