日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency

重新定义α-甲基酰基辅酶A消旋酶(AMACR)缺乏症的表型

Klouwer, Femke C C; Roosendaal, Stefan D; Hollak, Carla E M; Langeveld, Mirjam; Poll-The, Bwee Tien; Sorge, Arlette J van; Wolf, Nicole I; Knaap, Marjo S van der; Engelen, Marc

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

由POLR3A、POLR3B和POLR1C基因变异引起的4H脑白质营养不良的内分泌和生长异常

Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

患有泽尔维格谱系障碍和16p11.2缺失综合征的患者出现高胰岛素血症

Hoytema van Konijnenburg, Eva M M; Luirink, Ilse K; Schagen, Sebastian E E; Engelen, Marc; Berendse, Kevin; Poll-The, Bwee Tien; Chegary, Malika

Disease progression in women with X-linked adrenoleukodystrophy is slow

X连锁肾上腺脑白质营养不良症女性患者的疾病进展缓慢。

Huffnagel, Irene C; Dijkgraaf, Marcel G W; Janssens, Georges E; van Weeghel, Michel; van Geel, Björn M; Poll-The, Bwee Tien; Kemp, Stephan; Engelen, Marc

Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury

更正:神经影像学对儿童创伤性脑损伤后神经认知和行为结果的相关性

Königs, Marsh; Pouwels, Petra Jw; Ernest van Heurn, L W; Bakx, Roel; Jeroen Vermeulen, R; Goslings, J C; Poll-The, Bwee Tien; van der Wees, Marleen; Catsman-Berrevoets, Coriene E; Oosterlaan, Jaap

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

眼动失用症1型共济失调的临床、生物标志物和分子特征及基因型-表型相关性

Renaud, Mathilde; Moreira, Maria-Céu; Ben Monga, Bondo; Rodriguez, Diana; Debs, Rabab; Charles, Perrine; Chaouch, Malika; Ferrat, Farida; Laurencin, Chloé; Vercueil, Laurent; Mallaret, Martial; M'Zahem, Abderrahim; Pacha, Lamia Ali; Tazir, Meriem; Tilikete, Caroline; Ollagnon, Elisabeth; Ochsner, François; Kuntzer, Thierry; Jung, Hans H; Beis, Jean-Marie; Netter, Jean-Claude; Djamshidian, Atbin; Bower, Mattew; Bottani, Armand; Walsh, Richard; Murphy, Sinead; Reiley, Thomas; Bieth, Éric; Roelens, Filip; Poll-The, Bwee Tien; Lourenço, Charles Marques; Jardim, Laura Bannach; Straussberg, Rachel; Landrieu, Pierre; Roze, Emmanuel; Thobois, Stéphane; Pouget, Jean; Guissart, Claire; Goizet, Cyril; Dürr, Alexandra; Tranchant, Christine; Koenig, Michel; Anheim, Mathieu

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

荷兰儿童获得性脱髓鞘综合征的发病率和预后:一项全国性前瞻性研究的最新进展

de Mol, C L; Wong, Y Y M; van Pelt, E D; Ketelslegers, I A; Bakker, D P; Boon, M; Braun, K P J; van Dijk, K G J; Eikelenboom, M J; Engelen, M; Geleijns, K; Haaxma, C A; Niermeijer, J M F; Niks, E H; Peeters, E A J; Peeters-Scholte, C M P C D; Poll-The, B T; Portier, R P; de Rijk-van Andel, J F; Samijn, J P A; Schippers, H M; Snoeck, I N; Stroink, H; Vermeulen, R J; Verrips, A; Visscher, F; Vles, J S H; Willemsen, M A A P; Catsman-Berrevoets, C E; Hintzen, R Q; Neuteboom, R F

Brain atrophy following hemiplegic migraine attacks

偏瘫性偏头痛发作后出现脑萎缩

Pelzer, Nadine; Hoogeveen, Evelien S; Ferrari, Michel D; Poll-The, Bwee Tien; Kruit, Mark C; Terwindt, Gisela M

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

齐薇格综合征中的凝血病:维生素 K 的作用

Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, Monique H Suijker, Marc Engelen, Bwee Tien Poll-The, C Heleen van Ommen

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

一名23岁女性患有小头畸形和进行性小脑共济失调,其基因检测发现SEPSECS突变。

van Dijk, Tessa; Vermeij, Jan-Dirk; van Koningsbruggen, Silvana; Lakeman, Phillis; Baas, Frank; Poll-The, Bwee Tien