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Refinado por: Nome da Publicação: Journal Of Inherited Metabolic Disease remover
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1
Integrative omics approaches to advance rare disease diagnostics
Integrative omics approaches to advance rare disease diagnostics
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Integrative omics approaches to advance rare disease diagnostics

Smirnov, Dmitrii ; Konstantinovskiy, Nikita ; Prokisch, Holger

Journal of inherited metabolic disease, 2023-09, Vol.46 (5), p.824-838 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
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Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms

Abela, Lucia ; Kurian, Manju A.

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1077-1091 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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3
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review
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AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review

Braissant, O. ; Henry, H.

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.230-239 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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4
What is new in CDG?
What is new in CDG?
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What is new in CDG?

Jaeken, Jaak ; Péanne, Romain

Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.569-586 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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5
Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
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Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

Tylki-Szymańska, Anna ; Vellodi, Ashok ; El-Beshlawy, Amal ; Cole, J. Alexander ; Kolodny, Edwin

Journal of inherited metabolic disease, 2010-08, Vol.33 (4), p.339-346 [Periódico revisado por pares]

Dordrecht: Dordrecht : Springer Netherlands

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6
neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)
neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)
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neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

Chérin, P ; Rose, C ; de Roux-Serratrice, C ; Tardy, D ; Dobbelaere, D ; Grosbois, B ; Hachulla, E ; Jaussaud, R ; Javier, R.-M ; Noël, E ; Clerson, P ; Hartmann, A

Journal of inherited metabolic disease, 2010-08, Vol.33 (4), p.331-338 [Periódico revisado por pares]

Dordrecht: Dordrecht : Springer Netherlands

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7
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva ; Tiemes, Vera ; Thiel, Christian ; Seta, Nathalie ; de Lonlay, Pascale ; de Klerk, Hans ; Mulder, Margot ; Rubio-Gozalbo, Estela ; Visser, Gepke ; van Hasselt, Peter ; Horovitz, Dafne D. G. ; de Souza, Carolina Fischinger Moura ; Schwartz, Ida V. D. ; Green, Andrew ; Al-Owain, Mohammed ; Uziel, Graciella ; Sigaudy, Sabine ; Chabrol, Brigitte ; van Spronsen, Franc-Jan ; Steinert, Martin ; Komini, Eleni ; Wurm, Donald ; Bevot, Andrea ; Ayadi, Addelkarim ; Huijben, Karin ; Dercksen, Marli ; Witters, Peter ; Jaeken, Jaak ; Matthijs, Gert ; Lefeber, Dirk J. ; Wevers, Ron A.

Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.713-723 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits
Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits
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Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits

Hautman, Emily R. ; Kokenge, Amanda N. ; Udobi, Kenea C. ; Williams, Michael T. ; Vorhees, Charles V. ; Skelton, Matthew R.

Journal of inherited metabolic disease, 2014-01, Vol.37 (1), p.63-68 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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9
Whole genome sequencing to screen 100000 newborns for treatable genetic disorders
Whole genome sequencing to screen 100000 newborns for treatable genetic disorders
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Whole genome sequencing to screen 100000 newborns for treatable genetic disorders

Rahman, Shamima ; Bick, David ; Scott, Richard H

Journal of inherited metabolic disease, 2024-01, Vol.47 (1), p.7-8 [Periódico revisado por pares]

Dordrecht: Blackwell Publishing Ltd

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10
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Häberle, Johannes ; Burlina, Alberto ; Chakrapani, Anupam ; Dixon, Marjorie ; Karall, Daniela ; Lindner, Martin ; Mandel, Hanna ; Martinelli, Diego ; Pintos‐Morell, Guillem ; Santer, René ; Skouma, Anastasia ; Servais, Aude ; Tal, Galit ; Rubio, Vicente ; Huemer, Martina ; Dionisi‐Vici, Carlo

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1192-1230 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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