Works matching IS 17501172 AND DT 2010 AND VI 5

Results: 58

Mucopolysaccharidosis VI.

Published in:

2010

By:

Valayannopoulos V;
Nicely H;
Harmatz P;
Turbeville S;
Valayannopoulos, Vassili;
Nicely, Helen;
Harmatz, Paul;
Turbeville, Sean

Publication type:

journal article

Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report.

Published in:

2010

By:

Acién P;
Galán F;
Manchón I;
Ruiz E;
Acién M;
Alcaraz LA;
Acién, Pedro;
Galán, Francisco;
Manchón, Irene;
Ruiz, Eva;
Acién, Maribel;
Alcaraz, Luis A

Publication type:

journal article

Rothmund-Thomson syndrome.

Published in:

2010

By:

Larizza L;
Roversi G;
Volpi L;
Larizza, Lidia;
Roversi, Gaia;
Volpi, Ludovica

Publication type:

journal article

Interstitial lung diseases in children.

Published in:

2010

By:

Clement A;
Nathan N;
Epaud R;
Fauroux B;
Corvol H;
Clement, Annick;
Nathan, Nadia;
Epaud, Ralph;
Fauroux, Brigitte;
Corvol, Harriet

Publication type:

journal article

Hereditary combined deficiency of the vitamin K-dependent clotting factors.

Published in:

2010

By:

Napolitano M;
Mariani G;
Lapecorella M;
Napolitano, Mariasanta;
Mariani, Guglielmo;
Lapecorella, Mario

Publication type:

journal article

Silver-Russell syndrome: genetic basis and molecular genetic testing.

Published in:

2010

By:

Eggermann T;
Begemann M;
Binder G;
Spengler S;
Eggermann, Thomas;
Begemann, Matthias;
Binder, Gerhard;
Spengler, Sabrina

Publication type:

journal article

Congenital hypothyroidism.

Published in:

2010

By:

Rastogi MV;
Lafranchi SH;
Rastogi, Maynika V;
LaFranchi, Stephen H

Publication type:

journal article

Niemann-Pick disease type C.

Published in:

2010

By:

Vanier MT;
Vanier, Marie T

Publication type:

journal article

Beta-thalassemia.

Published in:

2010

By:

Galanello R;
Origa R;
Galanello, Renzo;
Origa, Raffaella

Publication type:

journal article

Inherited epidermolysis bullosa.

Published in:

2010

By:

Fine JD;
Fine, Jo-David

Publication type:

journal article

Alpha-thalassaemia.

Published in:

2010

By:

Harteveld CL;
Higgs DR;
Harteveld, Cornelis L;
Higgs, Douglas R

Publication type:

journal article

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Published in:

2010

By:

Pinto LL;
Vieira TA;
Giugliani R;
Schwartz IV;
Pinto, Louise L C;
Vieira, Taiane A;
Giugliani, Roberto;
Schwartz, Ida V D

Publication type:

journal article

Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism.

Published in:

2010

By:

Amar L;
Plouin PF;
Steichen O;
Amar, Laurence;
Plouin, Pierre-François;
Steichen, Olivier

Publication type:

journal article

A review of trisomy X (47,XXX).

Published in:

2010

By:

Tartaglia NR;
Howell S;
Sutherland A;
Wilson R;
Wilson L;
Tartaglia, Nicole R;
Howell, Susan;
Sutherland, Ashley;
Wilson, Rebecca;
Wilson, Lennie

Publication type:

journal article

Huntington's disease: a clinical review.

Published in:

2010

By:

Roos, Raymund Ac;
Roos, Raymund A C

Publication type:

journal article

Toxic epidermal necrolysis and Stevens-Johnson syndrome.

Published in:

2010

By:

Harr, Thomas;
French, Lars E

Publication type:

journal article

Fabry disease.

Published in:

2010

By:

Germain, Dominique P

Publication type:

journal article

Acro-cardio-facial syndrome.

Published in:

2010

By:

Digilio MC;
Dallapiccola B;
Digilio, Maria Cristina;
Dallapiccola, Bruno

Publication type:

journal article

Huntington's disease: a clinical review.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 40, doi. 10.1186/1750-1172-5-40

By:

Roos, Raymund A. C.

Publication type:

Article

Toxic epidermal necrolysis and Stevens-Johnson syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 39, doi. 10.1186/1750-1172-5-39

By:

Harr, Thomas;
French, Lars E.

Publication type:

Article

The Schnitzler syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 38, doi. 10.1186/1750-1172-5-38

By:

Lipsker, Dan

Publication type:

Article

Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 33, doi. 10.1186/1750-1172-5-33

By:

Redaelli, Chiara;
Coleman, Rosalind A.;
Moro, Laura;
Dacou-Voutetakis, Catherine;
Elsayed, Solaf Mohamed;
Prati, Daniele;
Colli, Agostino;
Mela, Donatella;
Colombo, Roberto;
Tavian, Daniela

Publication type:

Article

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

Published in:

2010

By:

De Somer, Lien;
Wouters, Carine;
Morren, Marie-Anne;
Vos, Rita De;
Van Den Oord, Joost;
Devriendt, Koenraad;
Meyts, Isabelle

Publication type:

Case Study

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 36, doi. 10.1186/1750-1172-5-36

By:

Andreotti, Giuseppina;
Guarracino, Mario R.;
Cammisa, Marco;
Correra, Antonella;
Cubellis, Maria Vittoria

Publication type:

Article

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 35, doi. 10.1186/1750-1172-5-35

By:

Böhm, Johann;
Yiş, Uluç;
Ortaç, Ragip;
Çakmakçi, Handan;
Kurul, Semra Hiz;
Dirik, Eray;
Laporte, Jocelyn

Publication type:

Article

The diagnosis of inherited metabolic diseases by microarray gene expression profiling.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 34, doi. 10.1186/1750-1172-5-34

By:

Hernandez, Monica Arenas;
Schulz, Reiner;
Chaplin, Tracy;
Young, Bryan D.;
Perrett, David;
Champion, Michael P.;
Taanman, Jan-Willem;
Fensom, Anthony;
Marinaki, Anthony M.

Publication type:

Article

In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 32, doi. 10.1186/1750-1172-5-32

By:

Barilli, Amelia;
Rotoli, Bianca Maria;
Visigalli, Rossana;
Bussolati, Ovidio;
Gazzola, Gian C.;
Kadija, Zamir;
Rodi, Giuseppe;
Mariani, Francesca;
Ruzza, Maria Lorena;
Luisetti, Maurizio;
Dall'Asta, Valeria

Publication type:

Article

In vivo effects of antibodies from patients with anti-NMDA receptor encephalitis: further evidence of synaptic glutamatergic dysfunction.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 31, doi. 10.1186/1750-1172-5-31

By:

Manto, Mario;
Dalmau, Josep;
Didelot, Adrien;
Rogemond, Véronique;
Honnorat, Jérôme

Publication type:

Article

Fabry disease.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 30, doi. 10.1186/1750-1172-5-30

By:

Germain, Dominique P.

Publication type:

Article

Wolcott-Rallison syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 29, doi. 10.1186/1750-1172-5-29

By:

Julier, Cécile;
Nicolino, Marc

Publication type:

Article

Dent's disease.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 28, doi. 10.1186/1750-1172-5-28

By:

Devuyst, Olivier;
Thakker, Rajesh V.

Publication type:

Article

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 27, doi. 10.1186/1750-1172-5-27

By:

Schneider, Hauke;
Lingesleben, Alexandra;
Vogel, Hans-Peter;
Garuti, Rita;
Calandra, Sebastiano

Publication type:

Article

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

Published in:

2010

By:

Dessein, Anne-Frédérique;
Fontaine, Monique;
Andresen, Brage S.;
Gregersen, Niels;
Brivet, Michèle;
Rabier, Daniel;
Napuri-Gouel, Silvia;
Dobbelaere, Dries;
Mention-Mulliez, Karine;
Martin-Ponthieu, Annie;
Briand, Gilbert;
Millington, David S.;
Vianey-Saban, Christine;
Wanders, Ronald J. A.;
Vamecq, Joseph

Publication type:

Case Study

Acro-cardio-facial syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 25, doi. 10.1186/1750-1172-5-25

By:

Digilio, Maria Cristina;
Dallapiccola, Bruno

Publication type:

Article

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 24, doi. 10.1186/1750-1172-5-24

By:

Peretti, Noel;
Sassolas, Agnès;
Roy, Claude C.;
Deslandres, Colette;
Charcosset, Mathilde;
Castagnetti, Justine;
Pugnet-Chardon, Laurence;
Moulin, Philippe;
Labarge, Sylvie;
Bouthillier, Lise;
Lachaux, Alain;
Levy, Emile

Publication type:

Article

Bleeding disorders in the tribe: result of consanguineous in breeding.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 23, doi. 10.1186/1750-1172-5-23

By:

Borhany, Munira;
Pahore, Zaen;
Qadr, Zeeshan ul;
Rehan, Muhammad;
Naz, Arshi;
Khan, Asif;
Ansari, Saqib;
Farzana, Tasneem;
Nadeem, Muhammad;
Raza, Syed Amir;
Shamsi, Tahir

Publication type:

Article

Interstitial lung diseases in children.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 22, doi. 10.1186/1750-1172-5-22

By:

Clement, Annick;
Nathan, Nadia;
Epaud, Ralph;
Fauroux, Brigitte;
Corvol, Harriet

Publication type:

Article

Hereditary combined deficiency of the vitamin K-dependent clotting factors.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 21, doi. 10.1186/1750-1172-5-21

By:

Napolitano, Mariasanta;
Mariani, Guglielmo;
Lapecorella, Mario

Publication type:

Article

Joubert Syndrome and related disorders.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 20, doi. 10.1186/1750-1172-5-20

By:

Brancati, Francesco;
Dallapiccola, Bruno;
Valente, Enza Maria

Publication type:

Article

Silver-Russell syndrome: genetic basis and molecular genetic testing.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 19, doi. 10.1186/1750-1172-5-19

By:

Eggermann, Thomas;
Begemann, Matthias;
Binder, Gerhard;
Spengler, Sabrina

Publication type:

Article

Rituximab ameliorated severe hearing loss in Cogan's syndrome: a case report.

Published in:

2010

By:

Orsoni, Jelka G.;
Laganà, Bruno;
Rubino, Pierangela;
Zavota, Laura;
Bacciu, Salvatore;
Mora, Paolo

Publication type:

Case Study

Congenital hypothyroidism.

Published in:

2010

By:

Rastogi, Maynika V.;
LaFranchi, Stephen H.

Publication type:

Case Study

Niemann-Pick disease type C.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 16, doi. 10.1186/1750-1172-5-16

By:

Vanier, Marie T.

Publication type:

Article

Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 10, doi. 10.1186/1750-1172-5-10

By:

Grievink, Hilbert;
Stowell, Kathryn M.

Publication type:

Article

Diagnosis and mortality in 47,XYY persons: a registry study.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 15, doi. 10.1186/1750-1172-5-15

By:

Stochholm, Kirstine;
Juul, Svend;
Gravholt, Claus H.

Publication type:

Article

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 14, doi. 10.1186/1750-1172-5-14

By:

Pinto, Louise L. C.;
Vieira, Taiane A.;
Giugliani, Roberto;
Schwartz, Ida V. D.

Publication type:

Article

α-thalassaemia.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 13, doi. 10.1186/1750-1172-5-13

By:

Harteveld, Cornelis L.;
Higgs, Douglas R.

Publication type:

Article

Inherited epidermolysis bullosa.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 12, doi. 10.1186/1750-1172-5-12

By:

Fine, Jo-David

Publication type:

Article

Beta-thalassemia.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 11, doi. 10.1186/1750-1172-5-11

By:

Galanello, Renzo;
Origa, Raffaella

Publication type:

Article

Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism.

Published in:

Orphanet Journal of Rare Diseases, 2010, v. 5, p. 9, doi. 10.1186/1750-1172-5-9

By:

Amar, Laurence;
Plouin, Pierre-François;
Steichen, Olivier

Publication type:

Article