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Unusual presentations of acute mastoiditis should be considered when young children present with neurological symptoms

Acta paediatrica (Oslo, Norway : 1992), 2024-08

2024

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Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.225-231

2011

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New splicing mutations in propionic acidemia

Journal of human genetics, 2006-11, Vol.51 (11), p.992-997

2006

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Functional characterization of PCCA mutations causing propionic acidemia

Biochimica et biophysica acta, 2002-11, Vol.1588 (2), p.119-125

2002

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Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

Molecular medicine (Cambridge, Mass.), 2015-06, Vol.21 (1), p.487-495

2015

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Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

Human molecular genetics, 2010-02, Vol.19 (4), p.584-596

2010

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Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes

Molecular medicine (Cambridge, Mass.), 2011-07, Vol.17 (7-8), p.748-756

2011

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Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

The veterinary journal (1997), 2013-12, Vol.198 (3), p.720-722

2013

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Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation

Molecular medicine (Cambridge, Mass.), 2010-09, Vol.16 (9-10), p.381-388

2010

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Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model

Blood, 2009-11, Vol.114 (22), p.3014-3014

2009

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Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Blood, 2010-02, Vol.115 (5), p.1062-1069

2010

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Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

Human genetics, 2004-08, Vol.115 (3), p.239-247

2004

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Some considerations on professional ethics in information and bibliotecology

MediSur, 2011-04, Vol.8 (2), p.107-116

2011

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Some considerations on professional ethics in information and bibliotecology

MediSur, 2011-04, Vol.8 (2), p.107-116

2011

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Eurasian otter (Lutra lutra) diet as an early indicator of recovery in defaunated river communities

Ecological indicators, 2020-10, Vol.117, p.106547, Article 106547

2020

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Impact of Suspected Preterm Labor during Pregnancy on Cardiometabolic Profile and Neurodevelopment during Childhood: A Prospective Cohort Study Protocol

Diagnostics (Basel), 2023-03, Vol.13 (6), p.1101

2023

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Suicidal ideation among people with Parkinson's disease and comparison with a control group

International journal of geriatric psychiatry, 2023-05, Vol.38 (5), p.e5919-n/a

2023

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Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

Communications biology, 2022-11, Vol.5 (1), p.1220-1220, Article 1220

2022

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Tackling frailty at primary care: evaluation of the effectiveness of a multicomponent intervention through a randomised controlled trial: study protocol

BMJ open, 2020-02, Vol.10 (2), p.e034591-e034591

2020

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Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment

Fertility and sterility, 2020-08, Vol.114 (2), p.398-406

2020

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Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort

Andrology (Oxford), 2021-07, Vol.9 (4), p.1151-1165

2021

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Unusual presentations of acute mastoiditis should be considered when young children present with neurological symptoms

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

New splicing mutations in propionic acidemia

Functional characterization of PCCA mutations causing propionic acidemia

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation

Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

Some considerations on professional ethics in information and bibliotecology

Some considerations on professional ethics in information and bibliotecology

Eurasian otter (Lutra lutra) diet as an early indicator of recovery in defaunated river communities

Re-Emergence of a West Nile Virus (WNV) Variant in South Spain with Rapid Spread Capacity

Survival study and factors associated with mortality in Chilean patients on peritoneal dialysis infected with SARS-CoV-2

Randomized phase II study of weekly carfilzomib 70 mg/m2 and dexamethasone with or without cyclophosphamide in relapsed and/or refractory multiple myeloma patients

Impact of Suspected Preterm Labor during Pregnancy on Cardiometabolic Profile and Neurodevelopment during Childhood: A Prospective Cohort Study Protocol

Suicidal ideation among people with Parkinson's disease and comparison with a control group

OAB-050: Randomized phase 2 study of weekly carfilzomib 70 mg/m2 and dexamethasone plus/minus cyclophosphamide in relapsed and/or refractory multiple (MM) patients (GEMKyCyDex)

Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

Tackling frailty at primary care: evaluation of the effectiveness of a multicomponent intervention through a randomised controlled trial: study protocol

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment

Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort

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