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Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature
Retinosis pigmentaria como clínica de presentación del déficit de LCHAD: caso clínico y revisión de la literatura
L.C. García Garcíaa,b,
Corresponding author
luis_90_mlg@hotmail.com

Corresponding author.
, F. Zamorano Martína, C. Rocha de Lossadaa, M. García Lorentea, G. Luque Arandaa, J. Escudero Gómeza
a Servicio de Oftalmología, Hospital Regional Universitario de Málaga, Málaga, Spain
b Servicio de Oftalmología, Hospital Universitario de Torrevieja, Torrevieja, Alicante, Spain
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more specifically&#44; their beta-oxidation&#46; This degradation process consists of 2 phases of oxidation followed by a phase of hydration and a last phase of thiolysis&#44; where the mitochondrial trifunctional protein&#44; or TFP&#44; composed of 4 alpha and 4 beta subunits&#44; catalyzes 3 of these reactions&#46; It intervenes through 3 enzymatic functions&#58; the 3-hydroxiacil CoA-deshydrogenase of long chain &#40;LCHAD&#41;&#44; the long chain enoyl CoA-hydrate and the long chain thiolase&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">LCHAD deficit has autosomal recessive nature&#46; It is produced by a specific mutation in the HADHA<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> gene&#44; located on the short arm of chromosome 2 &#40;2p23&#41;&#46; This is a rare condition&#44; with a prevalence of approximately one per 100&#44;000 live births&#44; combined with TFP deficiency&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> It usually expresses during episodes of illness or fasting and is characterized by lactic acidosis&#44; encephalopathy&#44; hypoketotic hypoglycemia and liver dysfunction&#46; Other complications include rhabdomyolysis&#44; cardiomyopathy&#44; peripheral neuropathy&#44; mental retardation and death&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> The ophthalmological condition expresses as pigment chorioretinopathy that could evolve to chorioretinal atrophy&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">It is usually detected in neonatal screening programs with the determination of acylcarnitine in plasma or organic acids in urine by mass spectrometry&#44; among other tests&#44; and diagnosis can be confirmed with DNA study&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Management consists mainly in avoiding fasting&#44; diets restricted to long chain fatty acids and supplementation with medium chain triglycerides&#44; as well as essential fatty acids&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Our objective&#44; based on the following case report&#44; is to increase knowledge of the main characteristics of the disease and to provide specific imaging tests in order to help ophthalmologists to suspect the disease when no previous diagnosis is available&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0035" class="elsevierStylePara elsevierViewall">The case of a 4 year old patient&#44; born after uneventful pregnancy and delivery&#44; is presented&#46; Gestational age was 40 weeks and 5 days&#44; with a weight of 3400<span class="elsevierStyleHsp" style=""></span>g&#46; Neonatal screening detected a fatty acid beta-oxidation disorder and the genetic study evidenced a mutation in the HADHA gene in homozygosis &#40;c&#46;1528G&#62;C&#41;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">The asymptomatic patient visited the Ophthalmology room at the age of 3 for follow-up treatment from another hospital&#46; Visual acuity was 20&#47;20 with Pigassou optotype in both eyes&#46; Cover test and anterior segment examination by biomicroscopy were normal&#46; Homogeneous&#44; symmetrical and bilateral hyperpigmentation in the fundus was observed in the fovea and perifoveal hypopigmentation &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41; and pigment aggregates in the peripheral retina &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; Optical coherence tomography &#40;3D OCT-1 Maestro&#44; TOPCON&#44; Tokyo&#44; Japan&#41; showed retinal pigment epithelium &#40;RPE&#41; hypertrophy at the foveal level associated to photoreceptor layer and perifoveal RPE atrophy &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0045" class="elsevierStylePara elsevierViewall">The electroretinogram recorded responses with discreetly diminished amplitude and bilateral disintegrated morphology as indicative findings of moderate intensity bilateral retinopathy&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">No alterations were observed in the study of visual evoked potentials that indicated injury to the optic nerve&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">Since birth and the diagnosis of the disease&#44; the patient has kept a strict dietary and metabolic control that has not prevented her from experiencing 3 metabolic crises including an episode with rhabdomyolysis due to the disease and which required hospital admission for recovery&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0060" class="elsevierStylePara elsevierViewall">At the ocular level&#44; LCHAD deficit is clinically manifested in the form of retinopathy of the pigment retinosis type&#44; this being one of the earliest expressions<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> as in the present case&#46; At the onset of the disease&#44; the retina exhibits normal characteristics&#46; The first findings are peripheral pigment aggregates&#44; associated or not to background hypopigmentation and&#47;or pigment accumulations in the macula&#44; evidenced in the fundus images of our patient&#46; AS the disease advances&#44; chorioretinal atrophy appears&#44; finally reaches the fovea&#46; The appearance of staphyllomas in the posterior pole&#44; myopia&#44; cataracts are also described&#46; Some authors have tried to classify these findings&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">At present&#44; the exact physiopathological mechanism of chorioretinopathy is not known but it is thought that it could be due to a possibly toxic effect of the accumulation of metabolites by incomplete beta-oxidation&#46; In vitro immunohistochemical antibody studies have revealed that&#44; in addition to RPE&#44; TFP has activity in other retinal layers such as photoreceptors and ganglion cells&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> This suggests that damage to photoreceptors plays a role in the development of retinopathy in LCHAD deficit&#44; although it is RPE that is most affected and the first layer to be compromised&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> This matches with the tomographic alterations of the case&#46; Other authors have demonstrated a destructuring of the inner plexiform layer in initial stages&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">Likewise&#44; the elevation of long-chain 3-hydroxyacylcarnitines has been associated with the progression of chorioretinopathy and retinal dysfunction as measured by electroretinogram&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><p id="par0075" class="elsevierStylePara elsevierViewall">It is interesting to point out the lack of correlation between retinal dystrophy and visual function in some occasions&#44; as shown in our case in which&#44; despite extensive involvement of the ocular fundus&#44; the patient maintains adequate visual acuity&#46;</p><p id="par0080" class="elsevierStylePara elsevierViewall">Despite the exhaustive dietary control of our patient&#44; acute metabolic decompensations &#40;inherent to the course of the disease&#41; could not be avoided&#46; This gives rise to suspect that the advanced state of retinal involvement could be related to successive subclinical crises that are not detected&#44; but which do favor the progression of the process and would justify the shorter life expectancy of these patients&#46;</p><p id="par0085" class="elsevierStylePara elsevierViewall">Finally&#44; the ophthalmological knowledge of this disease is of vital importance because&#44; although ocular compromise is very rarely the first finding in our environment in neonatal screening protocols&#44; we could have a less privileged population arriving from other countries where these screening programs are not available&#46; In these cases&#44; the ophthalmologist must detect the possible underlying systemic condition&#44; which may have an impact on the patient&#8217;s life prognosis&#46; For this purpose&#44; a correct and complete anamnesis is essential in every pediatric patient with retinitis pigmentosa&#46; Once the diagnostic suspicion is reached&#44; it is our obligation to alert other specialties since this entity requires multidisciplinary management and follow-up&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors&#46;</p></span></span>"
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        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene&#44; which leads to an alteration in the metabolic pathway of fatty acids&#46; Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa&#44; and in some cases the ophthalmologist could be the first one to alert the other paediatric specialties to carry out a multidisciplinary approach to the case&#46; The case is presented of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficit detected in neonatal screening&#44; and which clinically debuted as pigmentary retinosis with no alteration in visual acuity as observed in the fundus images and optical coherence tomography of the retina provided&#46; Finally&#44; a review of the literature of this potentially lethal pathology is presented&#44; and the main pathological and clinical features are highlighted&#46;</p></span>"
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        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">El d&#233;ficit de 3-hidroxiacil CoA-deshidrogenasa de cadena larga es una enfermedad metab&#243;lica poco frecuente debido a una mutaci&#243;n espec&#237;fica en el gen HADHA&#44; lo que provoca una alteraci&#243;n en la v&#237;a metab&#243;lica de los &#225;cidos grasos&#46; Su forma de presentaci&#243;n m&#225;s frecuente a nivel oftalmol&#243;gico es la retinosis pigmentaria&#44; y en algunos casos el oftalm&#243;logo podr&#237;a ser quien alerte a las dem&#225;s especialidades pedi&#225;tricas para llevar a cabo un abordaje multidisciplinar del caso&#46; Presentamos el caso de una paciente con d&#233;ficit de 3-hidroxiacil CoA-deshidrogenasa de cadena larga detectado en el cribado neonatal que inici&#243; cl&#237;nicamente como retinosis pigmentaria sin alteraci&#243;n de la agudeza visual y del que se aportan im&#225;genes de fondo de ojo y de tomograf&#237;a de coherencia &#243;ptica de la retina&#46; Por &#250;ltimo&#44; se expone una revisi&#243;n de la literatura de esta enfermedad potencialmente letal y se destacan las principales caracter&#237;sticas anatomopatol&#243;gicas y cl&#237;nicas&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Garc&#237;a Garc&#237;a LC&#44; Zamorano Mart&#237;n F&#44; Rocha de Lossada C&#44; Garc&#237;a Lorente M&#44; Luque Aranda G&#44; Escudero G&#243;mez J&#46; Retinosis pigmentaria como cl&#237;nica de presentaci&#243;n del d&#233;ficit de LCHAD&#58; caso cl&#237;nico y revisi&#243;n de la literatura&#46; Arch Soc Esp Oftalmol&#46; 202&#59;96&#58;496&#8211;499&#46;</p>"
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                0 => array:2 [
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                    0 => array:2 [
                      "titulo" => "Alteraciones del metabolismo de los amino&#225;cidos y de los &#225;cidos org&#225;nicos"
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:1 [
                            0 => "A&#46; Ribes Rubi&#243;"
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                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency&#58; a systematic review"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "H&#46; Fraser"
                            1 => "J&#46; Geppert"
                            2 => "R&#46; Johnson"
                            3 => "S&#46; Johnson"
                            4 => "M&#46; Connock"
                            5 => "A&#46; Clarke"
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                    ]
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                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1186/s13023-019-1226-y"
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                        "tituloSerie" => "Orphanet J Rare Dis"
                        "fecha" => "2019"
                        "volumen" => "14"
                        "paginaInicial" => "258"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/31730477"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
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              "identificador" => "bib0015"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
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                      "titulo" => "Fatal pitfalls in newborn screening for mitochondrial trifunctional protein &#40;MTP&#41;&#47;long-chain 3-hydroxyacyl-CoA dehydrogenase &#40;LCHAD&#41; deficiency"
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                        0 => array:2 [
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                          "autores" => array:6 [
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                            2 => "K&#46; Schiergens"
                            3 => "K&#46; Singer"
                            4 => "D&#46; Karall"
                            5 => "V&#46; Konstantopoulou"
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                      "doi" => "10.1186/s13023-018-0875-6"
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                        "tituloSerie" => "Orphanet J Rare Dis"
                        "fecha" => "2018"
                        "volumen" => "13"
                        "paginaInicial" => "122"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/30029694"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
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              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases"
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "S&#46; Moorthie"
                            1 => "L&#46; Cameron"
                            2 => "G&#46;S&#46; Sagoo"
                            3 => "J&#46;R&#46; Bonham"
                            4 => "H&#46; Burton"
                          ]
                        ]
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                    ]
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                    0 => array:2 [
                      "doi" => "10.1007/s10545-014-9729-0"
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                        "tituloSerie" => "J Inherit Metab Dis"
                        "fecha" => "2014"
                        "volumen" => "37"
                        "paginaInicial" => "889"
                        "paginaFinal" => "898"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25022222"
                            "web" => "Medline"
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                          "pii" => "S0140673619317738"
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              ]
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            4 => array:3 [
              "identificador" => "bib0025"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
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                          "autores" => array:6 [
                            0 => "I&#46; De Biase"
                            1 => "K&#46;S&#46; Viau"
                            2 => "A&#46; Liu"
                            3 => "T&#46; Yuzyuk"
                            4 => "L&#46;D&#46; Botto"
                            5 => "M&#46; Pasquali"
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                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/8904_2016_558"
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                        "tituloSerie" => "JIMD Rep"
                        "fecha" => "2017"
                        "volumen" => "31"
                        "paginaInicial" => "63"
                        "paginaFinal" => "71"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27117294"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0030"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency"
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "T&#46; Tyni"
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                            2 => "P&#46; Lindahl"
                            3 => "A&#46; Majander"
                            4 => "T&#46; Kivel&#228;"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
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                      "Revista" => array:6 [
                        "tituloSerie" => "Ophthalmic Res"
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                        "paginaInicial" => "75"
                        "paginaFinal" => "81"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22473002"
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                      "titulo" => "Mitochondrial fatty acid &#946;-oxidation in the retinal pigment epithelium"
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                          "etal" => false
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                            0 => "T&#46; Tyni"
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                            2 => "S&#46; Eaton"
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                            4 => "R&#46; Andrews"
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                    ]
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                    0 => array:2 [
                      "doi" => "10.1203/00006450-200210000-00021"
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                        "tituloSerie" => "Pediatr Res"
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                        "volumen" => "52"
                        "paginaInicial" => "595"
                        "paginaFinal" => "600"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12357056"
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                          ]
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                      ]
                    ]
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib0040"
              "etiqueta" => "8"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Mitochondrial fatty acid &#946;-oxidation in the human eye and brain&#58; implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency"
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                        0 => array:2 [
                          "etal" => false
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                            2 => "A&#46;W&#46; Strauss"
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                            4 => "T&#46; Kivel&#228;"
                          ]
                        ]
                      ]
                    ]
                  ]
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                    0 => array:2 [
                      "doi" => "10.1203/01.PDR.0000141967.52759.83"
                      "Revista" => array:6 [
                        "tituloSerie" => "Pediatr Res"
                        "fecha" => "2004"
                        "volumen" => "56"
                        "paginaInicial" => "744"
                        "paginaFinal" => "750"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15347768"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib0045"
              "etiqueta" => "9"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency&#58; a case report"
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                        0 => array:2 [
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                            0 => "A&#46; Llorca-Carde&#241;osa"
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                            2 => "A&#46; Garc&#237;a-Cazorla"
                            3 => "S&#46; Meavilla"
                            4 => "E&#46; Castej&#243;n-Ponce"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.oftal.2016.01.006"
                      "Revista" => array:6 [
                        "tituloSerie" => "Arch Soc Esp Oftalmol"
                        "fecha" => "2016"
                        "volumen" => "91"
                        "paginaInicial" => "236"
                        "paginaFinal" => "239"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26896063"
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                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
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                0 => array:2 [
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                    0 => array:2 [
                      "titulo" => "Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency"
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                        0 => array:2 [
                          "etal" => true
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                            3 => "W&#46;E&#46; Connor"
                            4 => "M&#46; Mills"
                            5 => "S&#46; van Calcar"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.ymgme.2005.06.001"
                      "Revista" => array:6 [
                        "tituloSerie" => "Mol Genet Metab"
                        "fecha" => "2005"
                        "volumen" => "86"
                        "paginaInicial" => "124"
                        "paginaFinal" => "133"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16040264"
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Original language: English
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